Canonical Allele Identifier: CA1107808010

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1296985419
• gnomAD v3: 7-138733225-A-ACCCCCCC
• gnomAD v4: 7-138733225-A-ACCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138733231_138733232insCCCCCCC , CM000669.2:g.138733231_138733232insCCCCCCC	GRCh38
NC_000007.13:g.138417976_138417977insCCCCCCC , CM000669.1:g.138417976_138417977insCCCCCCC	GRCh37
NC_000007.12:g.138068516_138068517insCCCCCCC	NCBI36
NG_008145.1:g.69971_69972insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1692-133_1692-132insGGGGGGG MANE Select	ENSP00000308122.2:n.1692-133_1692-132insGGGGGGG
ENST00000478480.2:c.918-133_918-132insGGGGGGG	ENSP00000495261.1:n.918-133_918-132insGGGGGGG
ENST00000644341.1:c.918-133_918-132insGGGGGGG	ENSP00000495642.1:n.918-133_918-132insGGGGGGG
ENST00000645515.1:c.1692-133_1692-132insGGGGGGG	ENSP00000496421.1:n.1692-133_1692-132insGGGGGGG
ENST00000647427.1:c.585-133_585-132insGGGGGGG	ENSP00000496259.1:n.585-133_585-132insGGGGGGG
ENST00000310018.6:c.1692-133_1692-132insGGGGGGG	ENSP00000308122.2:n.1692-133_1692-132insGGGGGGG
ENST00000353492.4:c.1692-133_1692-132insGGGGGGG	ENSP00000253856.6:n.1692-133_1692-132insGGGGGGG
ENST00000393054.5:c.1692-133_1692-132insGGGGGGG	ENSP00000376774.1:n.1692-133_1692-132insGGGGGGG
NM_020632.2:c.1692-133_1692-132insGGGGGGG	NP_065683.2:n.1692-133_1692-132insGGGGGGG
NM_130840.2:c.1692-133_1692-132insGGGGGGG	NP_570855.2:n.1692-133_1692-132insGGGGGGG
NM_130841.2:c.1692-133_1692-132insGGGGGGG	NP_570856.2:n.1692-133_1692-132insGGGGGGG
XM_005250393.1:c.1692-133_1692-132insGGGGGGG	XP_005250450.1:n.1692-133_1692-132insGGGGGGG
XM_005250394.2:c.1692-133_1692-132insGGGGGGG	XP_005250451.1:n.1692-133_1692-132insGGGGGGG
XM_005250394.3:c.1692-133_1692-132insGGGGGGG	XP_005250451.1:n.1692-133_1692-132insGGGGGGG
NM_020632.3:c.1692-133_1692-132insGGGGGGG MANE Select	NP_065683.2:n.1692-133_1692-132insGGGGGGG
NM_130840.3:c.1692-133_1692-132insGGGGGGG	NP_570855.2:n.1692-133_1692-132insGGGGGGG
NM_130841.3:c.1692-133_1692-132insGGGGGGG	NP_570856.2:n.1692-133_1692-132insGGGGGGG