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See other PFKL CNV Assays ›
Gene Symbol
PFKL
Assay Reference Genome
Location

Chr.21:44316341 on build GRCh38
Cytoband
Assay ID Hs01922973_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 5211

Gene Name:

 phosphofructokinase, liver type

Gene Aliases:

 ATP-PFK, PFK-B, PFK-L

Location:

 Chr.21:44300053-44327373 on Build GRCh38

Assay Gene Location:

 Overlaps Exon 14 - Intron 14
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PFKL NM_001002021.3 NP_001002021.2
NM_002626.6 NP_002617.3
XM_005261135.4 XP_005261192.1
XM_005261137.5 XP_005261194.1
XM_006724011.2 XP_006724074.1
XM_011529603.3 XP_011527905.1
XM_017028369.2 XP_016883858.1
XM_024452085.2 XP_024307853.1
XM_047440822.1 XP_047296778.1
XM_047440823.1 XP_047296779.1
XM_047440824.1 XP_047296780.1
XM_047440825.1 XP_047296781.1
AB209127.1 BAD92364.1
AK091488.1
AK303605.1 BAG64620.1
AK308437.1
BC006422.1 AAH06422.1
BC007536.1 AAH07536.1
BC008964.2 AAH08964.1
BC009919.2 AAH09919.1
BC018295.1 AAH18295.2
BU177678.1
BX537446.1 CAD97688.1
X15573.1 CAA33597.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv4276300 Chr.21:44310747 - 44317909 on Build GRCh38 Deletion PFKL
nsv953646 Chr.21:44279118 - 44523117 on Build GRCh38 Deletion LRRC3 AIRE TRPM2 TSPEAR-AS1 PFKL LINC02575 TRPM2-AS CFAP410 TSPEAR TSPEAR-AS2 LRRC3-DT
nsv1058359 Chr.21:44304172 - 44547662 on Build GRCh38 Gain LRRC3 TRPM2 TSPEAR-AS1 PFKL LINC02575 TRPM2-AS KRTAP10-1 CFAP410 TSPEAR TSPEAR-AS2 LRRC3-DT
esv2723638 Chr.21:44249174 - 44593709 on Build GRCh38 Deletion LRRC3 TSPEAR-AS1 PFKL KRTAP10-4 TSPEAR DNMT3L KRTAP10-2 AIRE DNMT3L-AS1 TRPM2 LINC02575 TRPM2-AS KRTAP10-3 KRTAP10-5 KRTAP10-1 CFAP410 KRTAP10-6 TSPEAR-AS2 LRRC3-DT
nsv509800 Chr.21:44284048 - 44471571 on Build GRCh38 Insertion LRRC3 AIRE TRPM2 PFKL TRPM2-AS CFAP410 LRRC3-DT
nsv6041254 Chr.21:44287180 - 44349861 on Build GRCh38 Deletion AIRE PFKL CFAP410
nsv587779 Chr.21:44300477 - 44330463 on Build GRCh38 Loss PFKL CFAP410
nsv587740 Chr.21:44209682 - 44429981 on Build GRCh38 Loss AIRE DNMT3L-AS1 TRPM2 PFKL TRPM2-AS ICOSLG CFAP410 DNMT3L
nsv6553846 Chr.21:44306061 - 44353372 on Build GRCh38 Deletion TRPM2 PFKL CFAP410
esv33817 Chr.21:43749531 - 44647625 on Build GRCh38 Loss LRRC3 KRTAP10-8 AGPAT3 KRTAP10-9 TSPEAR AIRE TRPM2 KRTAP10-5 KRTAP10-10 TRAPPC10 GATD3 LRRC3-DT RRP1 KRTAP10-11 PDXK TSPEAR-AS1 PFKL PWP2 AATBC KRTAP10-4 DNMT3L KRTAP10-2 CSTB DNMT3L-AS1 KRTAP10-7 LINC02575 TRPM2-AS KRTAP10-3 ICOSLG KRTAP10-1 CFAP410 LINC01678 KRTAP10-6 TSPEAR-AS2 LOC105372832
nsv587780 Chr.21:44302559 - 44344514 on Build GRCh38 Loss PFKL CFAP410
nsv4283103 Chr.21:43950580 - 44658488 on Build GRCh38 Duplication LRRC3 KRTAP12-4 KRTAP10-8 AGPAT3 KRTAP10-9 TSPEAR AIRE TRPM2 KRTAP10-5 KRTAP10-10 TRAPPC10 GATD3 KRTAP12-3 LRRC3-DT KRTAP10-11 TSPEAR-AS1 PFKL PWP2 KRTAP10-4 DNMT3L KRTAP10-2 DNMT3L-AS1 KRTAP10-7 LINC02575 TRPM2-AS KRTAP10-3 ICOSLG KRTAP10-1 CFAP410 LINC01678 KRTAP10-6 TSPEAR-AS2 LOC105372832

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