Gene Symbol | Transcript Accession | Exon Location | Assay Location | Protein ID |
---|---|---|---|---|
UVSSA | NM_001317934.1 | NP_001304863.1 | ||
NM_001317935.1 | NP_001304864.1 | |||
NM_020894.3 | NP_065945.2 | |||
XM_017008490.1 | XP_016863979.1 | |||
XM_017008491.1 | XP_016863980.1 | |||
XM_017008492.1 | XP_016863981.1 | |||
XM_017008493.1 | XP_016863982.1 | |||
XM_017008494.1 | XP_016863983.1 | |||
XM_017008495.1 | XP_016863984.1 | |||
XM_017008498.1 | XP_016863987.1 | |||
XM_017008500.1 | XP_016863989.1 | |||
AB040963.1 | ||||
AK292661.1 | ||||
BC110331.1 | AAI10332.1 | |||
BC140901.1 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv950332 | Chr4:1364213 - 1367912 on Build GRCh38 | Deletion | UVSSA |
nsv822425 | Chr4:546316 - 1420011 on Build GRCh38 | Loss | IDUA SLC26A1 GAK ATP5I LOC101928521 LOC107986211 LOC100129917 NKX1-1 DGKQ LOC101928548 UVSSA MYL5 PCGF3 PDE6B SPON2 MFSD7 CTBP1-AS CRIPAK RNF212 MAEA LOC100130872 TMED11P FGFRL1 CPLX1 CTBP1 TMEM175 LOC105374344 CTBP1-AS2 |
nsv593278 | Chr4:1165892 - 1421910 on Build GRCh38 | Loss | LOC100130872 NKX1-1 LOC101928548 UVSSA CTBP1-AS CTBP1 CRIPAK CTBP1-AS2 SPON2 MAEA |
nsv593302 | Chr4:1344830 - 1420896 on Build GRCh38 | Loss | NKX1-1 UVSSA CRIPAK |