Canonical Allele Identifier: CA834065087

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1373609049
• gnomAD v3: 7-138706493-TAC-T
• gnomAD v4: 7-138706493-TAC-T
• MyVariant Identifiers: chr7:g.138391239_138391240del (hg19) ; chr7:g.138706494_138706495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706497_138706498del , CM000669.2:g.138706497_138706498del	GRCh38
NC_000007.13:g.138391242_138391243del , CM000669.1:g.138391242_138391243del	GRCh37
NC_000007.12:g.138041782_138041783del	NCBI36
NG_008145.1:g.96702_96703del
NG_051552.1:g.53_54del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*129_*130del MANE Select	ENSP00000308122.2:n.*129_*130del
ENST00000478480.2:c.*217_*218del	ENSP00000495261.1:n.*217_*218del
ENST00000644341.1:c.*129_*130del	ENSP00000495642.1:n.*129_*130del
ENST00000645515.1:c.*129_*130del	ENSP00000496421.1:n.*129_*130del
ENST00000647427.1:c.1427_1428del	ENSP00000496259.1:n.1427_1428del
ENST00000310018.6:c.*129_*130del	ENSP00000308122.2:n.*129_*130del
ENST00000393054.5:c.*129_*130del	ENSP00000376774.1:n.*129_*130del
NM_020632.2:c.*129_*130del	NP_065683.2:n.*129_*130del
NM_130840.2:c.*129_*130del	NP_570855.2:n.*129_*130del
NM_130841.2:c.*129_*130del	NP_570856.2:n.*129_*130del
XM_005250393.1:c.*129_*130del	XP_005250450.1:n.*129_*130del
XM_005250394.2:c.*129_*130del	XP_005250451.1:n.*129_*130del
XM_005250394.3:c.*129_*130del	XP_005250451.1:n.*129_*130del
NM_020632.3:c.*129_*130del MANE Select	NP_065683.2:n.*129_*130del
NM_130840.3:c.*129_*130del	NP_570855.2:n.*129_*130del
NM_130841.3:c.*129_*130del	NP_570856.2:n.*129_*130del