Canonical Allele Identifier: CA834053306

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1158769011
• gnomAD v3: 7-138733081-TC-T
• gnomAD v4: 7-138733081-TC-T
• MyVariant Identifiers: chr7:g.138417827del (hg19) ; chr7:g.138733082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138733082del , CM000669.2:g.138733082del	GRCh38
NC_000007.13:g.138417827del , CM000669.1:g.138417827del	GRCh37
NC_000007.12:g.138068367del	NCBI36
NG_008145.1:g.70115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1703del MANE Select	ENSP00000308122.2:p.Arg568LysfsTer13
ENST00000478480.2:c.929del	ENSP00000495261.1:p.Arg310LysfsTer13
ENST00000644341.1:c.929del	ENSP00000495642.1:p.Arg310LysfsTer13
ENST00000645515.1:c.1703del	ENSP00000496421.1:p.Arg568LysfsTer13
ENST00000647427.1:c.596del	ENSP00000496259.1:p.Arg199LysfsTer13
ENST00000310018.6:c.1703del	ENSP00000308122.2:p.Arg568LysfsTer13
ENST00000353492.4:c.1703del	ENSP00000253856.6:p.Arg568LysfsTer13
ENST00000393054.5:c.1703del	ENSP00000376774.1:p.Arg568LysfsTer13
NM_020632.2:c.1703del	NP_065683.2:p.Arg568LysfsTer13
NM_130840.2:c.1703del	NP_570855.2:p.Arg568LysfsTer13
NM_130841.2:c.1703del	NP_570856.2:p.Arg568LysfsTer13
XM_005250393.1:c.1703del	XP_005250450.1:p.Arg568LysfsTer13
XM_005250394.2:c.1703del	XP_005250451.1:p.Arg568LysfsTer13
XM_005250394.3:c.1703del	XP_005250451.1:p.Arg568LysfsTer13
NM_020632.3:c.1703del MANE Select	NP_065683.2:p.Arg568LysfsTer13
NM_130840.3:c.1703del	NP_570855.2:p.Arg568LysfsTer13
NM_130841.3:c.1703del	NP_570856.2:p.Arg568LysfsTer13