Canonical Allele Identifier: CA1746763566

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706338_138706339delinsAT , CM000669.2:g.138706338_138706339delinsAT	GRCh38
NC_000007.13:g.138391083_138391084delinsAT , CM000669.1:g.138391083_138391084delinsAT	GRCh37
NC_000007.12:g.138041623_138041624delinsAT	NCBI36
NG_008145.1:g.96858_96859delinsAT
NG_051552.1:g.209_210delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.*285_*286delinsAT MANE Select	ENSP00000308122.2:n.*285_*286delinsAT
ENST00000478480.2:c.*373_*374delinsAT	ENSP00000495261.1:n.*373_*374delinsAT
ENST00000644341.1:c.*285_*286delinsAT	ENSP00000495642.1:n.*285_*286delinsAT
ENST00000645515.1:c.*285_*286delinsAT	ENSP00000496421.1:n.*285_*286delinsAT
ENST00000310018.6:c.*285_*286delinsAT	ENSP00000308122.2:n.*285_*286delinsAT
ENST00000393054.5:c.*285_*286delinsAT	ENSP00000376774.1:n.*285_*286delinsAT
NM_020632.2:c.*285_*286delinsAT	NP_065683.2:n.*285_*286delinsAT
NM_130840.2:c.*285_*286delinsAT	NP_570855.2:n.*285_*286delinsAT
NM_130841.2:c.*285_*286delinsAT	NP_570856.2:n.*285_*286delinsAT
XM_005250393.1:c.*285_*286delinsAT	XP_005250450.1:n.*285_*286delinsAT
XM_005250394.2:c.*285_*286delinsAT	XP_005250451.1:n.*285_*286delinsAT
XM_005250394.3:c.*285_*286delinsAT	XP_005250451.1:n.*285_*286delinsAT
NM_020632.3:c.*285_*286delinsAT MANE Select	NP_065683.2:n.*285_*286delinsAT
NM_130840.3:c.*285_*286delinsAT	NP_570855.2:n.*285_*286delinsAT
NM_130841.3:c.*285_*286delinsAT	NP_570856.2:n.*285_*286delinsAT