Canonical Allele Identifier: CA167133282

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs977727080
• gnomAD v2: 7-138417908-CAAAGCACA-C
• gnomAD v3: 7-138733163-CAAAGCACA-C
• gnomAD v4: 7-138733163-CAAAGCACA-C
• MyVariant Identifiers: chr7:g.138417909_138417916del (hg19) ; chr7:g.138733164_138733171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138733175_138733182del , CM000669.2:g.138733175_138733182del	GRCh38
NC_000007.13:g.138417920_138417927del , CM000669.1:g.138417920_138417927del	GRCh37
NC_000007.12:g.138068460_138068467del	NCBI36
NG_008145.1:g.70026_70033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1692-78_1692-71del MANE Select	ENSP00000308122.2:n.1692-78_1692-71del
ENST00000478480.2:c.918-78_918-71del	ENSP00000495261.1:n.918-78_918-71del
ENST00000644341.1:c.918-78_918-71del	ENSP00000495642.1:n.918-78_918-71del
ENST00000645515.1:c.1692-78_1692-71del	ENSP00000496421.1:n.1692-78_1692-71del
ENST00000647427.1:c.585-78_585-71del	ENSP00000496259.1:n.585-78_585-71del
ENST00000310018.6:c.1692-78_1692-71del	ENSP00000308122.2:n.1692-78_1692-71del
ENST00000353492.4:c.1692-78_1692-71del	ENSP00000253856.6:n.1692-78_1692-71del
ENST00000393054.5:c.1692-78_1692-71del	ENSP00000376774.1:n.1692-78_1692-71del
NM_020632.2:c.1692-78_1692-71del	NP_065683.2:n.1692-78_1692-71del
NM_130840.2:c.1692-78_1692-71del	NP_570855.2:n.1692-78_1692-71del
NM_130841.2:c.1692-78_1692-71del	NP_570856.2:n.1692-78_1692-71del
XM_005250393.1:c.1692-78_1692-71del	XP_005250450.1:n.1692-78_1692-71del
XM_005250394.2:c.1692-78_1692-71del	XP_005250451.1:n.1692-78_1692-71del
XM_005250394.3:c.1692-78_1692-71del	XP_005250451.1:n.1692-78_1692-71del
NM_020632.3:c.1692-78_1692-71del MANE Select	NP_065683.2:n.1692-78_1692-71del
NM_130840.3:c.1692-78_1692-71del	NP_570855.2:n.1692-78_1692-71del
NM_130841.3:c.1692-78_1692-71del	NP_570856.2:n.1692-78_1692-71del