Canonical Allele Identifier: CA2685129917

Gene: ATP6V0A4

Linked Data

• gnomAD v4: 7-138762970-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762972del , CM000669.2:g.138762972del	GRCh38
NC_000007.13:g.138447717del , CM000669.1:g.138447717del	GRCh37
NC_000007.12:g.138098257del	NCBI36
NG_008145.1:g.40226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.346del MANE Select	ENSP00000308122.2:p.Ala116ProfsTer2
ENST00000645515.1:c.346del	ENSP00000496421.1:p.Ala116ProfsTer2
ENST00000310018.6:c.346del	ENSP00000308122.2:p.Ala116ProfsTer2
ENST00000353492.4:c.346del	ENSP00000253856.6:p.Ala116ProfsTer2
ENST00000393054.5:c.346del	ENSP00000376774.1:p.Ala116ProfsTer2
ENST00000483139.1:n.595del
NM_020632.2:c.346del	NP_065683.2:p.Ala116ProfsTer2
NM_130840.2:c.346del	NP_570855.2:p.Ala116ProfsTer2
NM_130841.2:c.346del	NP_570856.2:p.Ala116ProfsTer2
XM_005250393.1:c.346del	XP_005250450.1:p.Ala116ProfsTer2
XM_005250394.2:c.346del	XP_005250451.1:p.Ala116ProfsTer2
XM_005250394.3:c.346del	XP_005250451.1:p.Ala116ProfsTer2
NM_020632.3:c.346del MANE Select	NP_065683.2:p.Ala116ProfsTer2
NM_130840.3:c.346del	NP_570855.2:p.Ala116ProfsTer2
NM_130841.3:c.346del	NP_570856.2:p.Ala116ProfsTer2