Canonical Allele Identifier: CA457938018
Gene: ATP6V0A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138739359_138739360insTACAC , CM000669.2:g.138739359_138739360insTACAC GRCh38
NC_000007.13:g.138424104_138424105insTACAC , CM000669.1:g.138424104_138424105insTACAC GRCh37
NC_000007.12:g.138074644_138074645insTACAC NCBI36
NG_008145.1:g.63837_63838insGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.1572+180_1572+181insGTGTA MANE Select ENSP00000308122.2:n.1572+180_1572+181insGTGTA
ENST00000478480.2:c.798+180_798+181insGTGTA ENSP00000495261.1:n.798+180_798+181insGTGTA
ENST00000644341.1:c.798+180_798+181insGTGTA ENSP00000495642.1:n.798+180_798+181insGTGTA
ENST00000645515.1:c.1572+180_1572+181insGTGTA ENSP00000496421.1:n.1572+180_1572+181insGTGTA
ENST00000647427.1:c.465+180_465+181insGTGTA ENSP00000496259.1:n.465+180_465+181insGTGTA
ENST00000310018.6:c.1572+180_1572+181insGTGTA ENSP00000308122.2:n.1572+180_1572+181insGTGTA
ENST00000353492.4:c.1572+180_1572+181insGTGTA ENSP00000253856.6:n.1572+180_1572+181insGTGTA
ENST00000393054.5:c.1572+180_1572+181insGTGTA ENSP00000376774.1:n.1572+180_1572+181insGTGTA
ENST00000471085.1:n.252-5106_252-5105insGTGTA
NM_020632.2:c.1572+180_1572+181insGTGTA NP_065683.2:n.1572+180_1572+181insGTGTA
NM_130840.2:c.1572+180_1572+181insGTGTA NP_570855.2:n.1572+180_1572+181insGTGTA
NM_130841.2:c.1572+180_1572+181insGTGTA NP_570856.2:n.1572+180_1572+181insGTGTA
XM_005250393.1:c.1572+180_1572+181insGTGTA XP_005250450.1:n.1572+180_1572+181insGTGTA
XM_005250394.2:c.1572+180_1572+181insGTGTA XP_005250451.1:n.1572+180_1572+181insGTGTA
XM_005250394.3:c.1572+180_1572+181insGTGTA XP_005250451.1:n.1572+180_1572+181insGTGTA
NM_020632.3:c.1572+180_1572+181insGTGTA MANE Select NP_065683.2:n.1572+180_1572+181insGTGTA
NM_130840.3:c.1572+180_1572+181insGTGTA NP_570855.2:n.1572+180_1572+181insGTGTA
NM_130841.3:c.1572+180_1572+181insGTGTA NP_570856.2:n.1572+180_1572+181insGTGTA