Canonical Allele Identifier: CA2695208555
Gene: ATP6V0A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138732953_138732954delinsA , CM000669.2:g.138732953_138732954delinsA GRCh38
NC_000007.13:g.138417698_138417699delinsA , CM000669.1:g.138417698_138417699delinsA GRCh37
NC_000007.12:g.138068238_138068239delinsA NCBI36
NG_008145.1:g.70243_70244delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.1831_1832delinsT MANE Select ENSP00000308122.2:p.Ile612SerfsTer?
ENST00000478480.2:c.1057_1058delinsT ENSP00000495261.1:p.Ile354SerfsTer?
ENST00000644341.1:c.1057_1058delinsT ENSP00000495642.1:p.Ile354SerfsTer?
ENST00000645515.1:c.1831_1832delinsT ENSP00000496421.1:p.Ile612SerfsTer?
ENST00000647427.1:c.724_725delinsT ENSP00000496259.1:p.Ile243SerfsTer?
ENST00000310018.6:c.1831_1832delinsT ENSP00000308122.2:p.Ile612SerfsTer?
ENST00000353492.4:c.1831_1832delinsT ENSP00000253856.6:p.Ile612SerfsTer?
ENST00000393054.5:c.1831_1832delinsT ENSP00000376774.1:p.Ile612SerfsTer?
NM_020632.2:c.1831_1832delinsT NP_065683.2:p.Ile612SerfsTer?
NM_130840.2:c.1831_1832delinsT NP_570855.2:p.Ile612SerfsTer?
NM_130841.2:c.1831_1832delinsT NP_570856.2:p.Ile612SerfsTer?
XM_005250393.1:c.1831_1832delinsT XP_005250450.1:p.Ile612SerfsTer?
XM_005250394.2:c.1831_1832delinsT XP_005250451.1:p.Ile612SerfsTer?
XM_005250394.3:c.1831_1832delinsT XP_005250451.1:p.Ile612SerfsTer?
NM_020632.3:c.1831_1832delinsT MANE Select NP_065683.2:p.Ile612SerfsTer?
NM_130840.3:c.1831_1832delinsT NP_570855.2:p.Ile612SerfsTer?
NM_130841.3:c.1831_1832delinsT NP_570856.2:p.Ile612SerfsTer?