Canonical Allele Identifier: CA1746776887

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138733055_138733056delinsAT , CM000669.2:g.138733055_138733056delinsAT	GRCh38
NC_000007.13:g.138417800_138417801delinsAT , CM000669.1:g.138417800_138417801delinsAT	GRCh37
NC_000007.12:g.138068340_138068341delinsAT	NCBI36
NG_008145.1:g.70141_70142delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1729_1730delinsAT MANE Select	ENSP00000308122.2:p.Ile577=
ENST00000478480.2:c.955_956delinsAT	ENSP00000495261.1:p.Ile319=
ENST00000644341.1:c.955_956delinsAT	ENSP00000495642.1:p.Ile319=
ENST00000645515.1:c.1729_1730delinsAT	ENSP00000496421.1:p.Ile577=
ENST00000647427.1:c.622_623delinsAT	ENSP00000496259.1:p.Ile208=
ENST00000310018.6:c.1729_1730delinsAT	ENSP00000308122.2:p.Ile577=
ENST00000353492.4:c.1729_1730delinsAT	ENSP00000253856.6:p.Ile577=
ENST00000393054.5:c.1729_1730delinsAT	ENSP00000376774.1:p.Ile577=
NM_020632.2:c.1729_1730delinsAT	NP_065683.2:p.Ile577=
NM_130840.2:c.1729_1730delinsAT	NP_570855.2:p.Ile577=
NM_130841.2:c.1729_1730delinsAT	NP_570856.2:p.Ile577=
XM_005250393.1:c.1729_1730delinsAT	XP_005250450.1:p.Ile577=
XM_005250394.2:c.1729_1730delinsAT	XP_005250451.1:p.Ile577=
XM_005250394.3:c.1729_1730delinsAT	XP_005250451.1:p.Ile577=
NM_020632.3:c.1729_1730delinsAT MANE Select	NP_065683.2:p.Ile577=
NM_130840.3:c.1729_1730delinsAT	NP_570855.2:p.Ile577=
NM_130841.3:c.1729_1730delinsAT	NP_570856.2:p.Ile577=