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

Chr.21:44304340 on build GRCh38
Cytoband
Assay ID Hs01504653_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PFKL NM_001002021.3 2 204 NP_001002021.2
NM_002626.6 NP_002617.3
XM_005261135.4 XP_005261192.1
XM_006724011.2 2 204 XP_006724074.1
XM_017028369.2 2 204 XP_016883858.1
XM_024452085.2 2 204 XP_024307853.1
XM_047440822.1 2 204 XP_047296778.1
XM_047440824.1 2 122 XP_047296780.1
XM_047440825.1 2 204 XP_047296781.1
AB209127.1 BAD92364.1
AK091488.1
AK303605.1 BAG64620.1
AK308437.1
BC006422.1 2 169 AAH06422.1
BC007536.1 AAH07536.1
BC008964.2 AAH08964.1
BC009919.2 AAH09919.1
CB997055.1
HY111158.1
X15573.1 CAA33597.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv953646 Chr.21:44279118 - 44523117 on Build GRCh38 Deletion LINC02575 LRRC3-DT LRRC3 TSPEAR-AS2 TSPEAR-AS1 AIRE PFKL TSPEAR CFAP410 TRPM2-AS TRPM2
nsv1058359 Chr.21:44304172 - 44547662 on Build GRCh38 Gain LINC02575 LRRC3-DT LRRC3 TSPEAR-AS2 TSPEAR-AS1 PFKL TSPEAR CFAP410 TRPM2-AS KRTAP10-1 TRPM2
esv2723638 Chr.21:44249174 - 44593709 on Build GRCh38 Deletion LINC02575 LRRC3-DT LRRC3 TSPEAR-AS2 TSPEAR-AS1 CFAP410 KRTAP10-6 KRTAP10-1 TRPM2 KRTAP10-2 DNMT3L KRTAP10-5 AIRE PFKL TSPEAR TRPM2-AS DNMT3L-AS1 KRTAP10-4 KRTAP10-3
nsv509800 Chr.21:44284048 - 44471571 on Build GRCh38 Insertion LRRC3-DT LRRC3 AIRE PFKL CFAP410 TRPM2-AS TRPM2
nsv6041254 Chr.21:44287180 - 44349861 on Build GRCh38 Deletion AIRE PFKL CFAP410
nsv587779 Chr.21:44300477 - 44330463 on Build GRCh38 Loss PFKL CFAP410
nsv587774 Chr.21:44283777 - 44306907 on Build GRCh38 Loss AIRE PFKL
nsv587740 Chr.21:44209682 - 44429981 on Build GRCh38 Loss ICOSLG DNMT3L AIRE PFKL CFAP410 TRPM2-AS DNMT3L-AS1 TRPM2
esv33817 Chr.21:43749531 - 44647625 on Build GRCh38 Loss LINC02575 GATD3 LRRC3-DT PDXK LRRC3 AATBC CFAP410 PWP2 KRTAP10-6 TRPM2 KRTAP10-2 KRTAP10-11 KRTAP10-8 KRTAP10-7 KRTAP10-10 PFKL TSPEAR TRPM2-AS CSTB ICOSLG TSPEAR-AS2 TSPEAR-AS1 TRAPPC10 KRTAP10-1 LINC01678 DNMT3L KRTAP10-5 RRP1 AIRE DNMT3L-AS1 LOC105372832 KRTAP10-9 AGPAT3 KRTAP10-4 KRTAP10-3
nsv587780 Chr.21:44302559 - 44344514 on Build GRCh38 Loss PFKL CFAP410
nsv4283103 Chr.21:43950580 - 44658488 on Build GRCh38 Duplication LINC02575 GATD3 LRRC3-DT KRTAP12-3 LRRC3 CFAP410 PWP2 KRTAP10-6 TRPM2 KRTAP10-2 KRTAP10-11 KRTAP10-8 KRTAP10-7 KRTAP10-10 PFKL TSPEAR KRTAP12-4 TRPM2-AS ICOSLG TSPEAR-AS2 TSPEAR-AS1 TRAPPC10 KRTAP10-1 LINC01678 DNMT3L KRTAP10-5 AIRE DNMT3L-AS1 LOC105372832 KRTAP10-9 AGPAT3 KRTAP10-4 KRTAP10-3

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