Canonical Allele Identifier: CA2715920428

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs2117256853

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138739550_138739551insAATC , CM000669.2:g.138739550_138739551insAATC	GRCh38
NC_000007.13:g.138424295_138424296insAATC , CM000669.1:g.138424295_138424296insAATC	GRCh37
NC_000007.12:g.138074835_138074836insAATC	NCBI36
NG_008145.1:g.63647_63648insATTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.1562_1563insATTG MANE Select	ENSP00000308122.2:p.Ile522LeufsTer3
ENST00000478480.2:c.788_789insATTG	ENSP00000495261.1:p.Ile264LeufsTer3
ENST00000644341.1:c.788_789insATTG	ENSP00000495642.1:p.Ile264LeufsTer3
ENST00000645515.1:c.1562_1563insATTG	ENSP00000496421.1:p.Ile522LeufsTer3
ENST00000647427.1:c.455_456insATTG	ENSP00000496259.1:p.Ile153LeufsTer3
ENST00000310018.6:c.1562_1563insATTG	ENSP00000308122.2:p.Ile522LeufsTer3
ENST00000353492.4:c.1562_1563insATTG	ENSP00000253856.6:p.Ile522LeufsTer3
ENST00000393054.5:c.1562_1563insATTG	ENSP00000376774.1:p.Ile522LeufsTer3
ENST00000471085.1:n.252-5296_252-5295insATTG
NM_020632.2:c.1562_1563insATTG	NP_065683.2:p.Ile522LeufsTer3
NM_130840.2:c.1562_1563insATTG	NP_570855.2:p.Ile522LeufsTer3
NM_130841.2:c.1562_1563insATTG	NP_570856.2:p.Ile522LeufsTer3
XM_005250393.1:c.1562_1563insATTG	XP_005250450.1:p.Ile522LeufsTer3
XM_005250394.2:c.1562_1563insATTG	XP_005250451.1:p.Ile522LeufsTer3
XM_005250394.3:c.1562_1563insATTG	XP_005250451.1:p.Ile522LeufsTer3
NM_020632.3:c.1562_1563insATTG MANE Select	NP_065683.2:p.Ile522LeufsTer3
NM_130840.3:c.1562_1563insATTG	NP_570855.2:p.Ile522LeufsTer3
NM_130841.3:c.1562_1563insATTG	NP_570856.2:p.Ile522LeufsTer3