Canonical Allele Identifier: CA1746763637
Gene: ATP6V0A4 HGNC NCBI

Linked Data

dbSNP Id: rs1803366984

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706392_138706394del , CM000669.2:g.138706392_138706394del GRCh38
NC_000007.13:g.138391137_138391139del , CM000669.1:g.138391137_138391139del GRCh37
NC_000007.12:g.138041677_138041679del NCBI36
NG_008145.1:g.96808_96810del
NG_051552.1:g.159_161del

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.*235_*237del MANE Select ENSP00000308122.2:n.*235_*237del
ENST00000478480.2:c.*323_*325del ENSP00000495261.1:n.*323_*325del
ENST00000644341.1:c.*235_*237del ENSP00000495642.1:n.*235_*237del
ENST00000645515.1:c.*235_*237del ENSP00000496421.1:n.*235_*237del
ENST00000647427.1:c.1533_1535del ENSP00000496259.1:n.1533_1535del
ENST00000310018.6:c.*235_*237del ENSP00000308122.2:n.*235_*237del
ENST00000393054.5:c.*235_*237del ENSP00000376774.1:n.*235_*237del
NM_020632.2:c.*235_*237del NP_065683.2:n.*235_*237del
NM_130840.2:c.*235_*237del NP_570855.2:n.*235_*237del
NM_130841.2:c.*235_*237del NP_570856.2:n.*235_*237del
XM_005250393.1:c.*235_*237del XP_005250450.1:n.*235_*237del
XM_005250394.2:c.*235_*237del XP_005250451.1:n.*235_*237del
XM_005250394.3:c.*235_*237del XP_005250451.1:n.*235_*237del
NM_020632.3:c.*235_*237del MANE Select NP_065683.2:n.*235_*237del
NM_130840.3:c.*235_*237del NP_570855.2:n.*235_*237del
NM_130841.3:c.*235_*237del NP_570856.2:n.*235_*237del