Canonical Allele Identifier: CA2685126669
Gene: ATP6V0A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706599_138706606del , CM000669.2:g.138706599_138706606del GRCh38
NC_000007.13:g.138391344_138391351del , CM000669.1:g.138391344_138391351del GRCh37
NC_000007.12:g.138041884_138041891del NCBI36
NG_008145.1:g.96591_96598del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.*18_*25del MANE Select ENSP00000308122.2:n.*18_*25del
ENST00000478480.2:c.*106_*113del ENSP00000495261.1:n.*106_*113del
ENST00000644341.1:c.*18_*25del ENSP00000495642.1:n.*18_*25del
ENST00000645515.1:c.*18_*25del ENSP00000496421.1:n.*18_*25del
ENST00000647427.1:c.1316_1323del ENSP00000496259.1:n.1316_1323del
ENST00000310018.6:c.*18_*25del ENSP00000308122.2:n.*18_*25del
ENST00000353492.4:c.*18_*25del ENSP00000253856.6:n.*18_*25del
ENST00000393054.5:c.*18_*25del ENSP00000376774.1:n.*18_*25del
NM_020632.2:c.*18_*25del NP_065683.2:n.*18_*25del
NM_130840.2:c.*18_*25del NP_570855.2:n.*18_*25del
NM_130841.2:c.*18_*25del NP_570856.2:n.*18_*25del
XM_005250393.1:c.*18_*25del XP_005250450.1:n.*18_*25del
XM_005250394.2:c.*18_*25del XP_005250451.1:n.*18_*25del
XM_005250394.3:c.*18_*25del XP_005250451.1:n.*18_*25del
NM_020632.3:c.*18_*25del MANE Select NP_065683.2:n.*18_*25del
NM_130840.3:c.*18_*25del NP_570855.2:n.*18_*25del
NM_130841.3:c.*18_*25del NP_570856.2:n.*18_*25del