Canonical Allele Identifier: CA167133341

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs762913168
• gnomAD v2: 7-138417977-A-AC
• gnomAD v3: 7-138733232-A-AC
• gnomAD v4: 7-138733232-A-AC
• COSMIC: COSN1343491
• MyVariant Identifiers: chr7:g.138417977_138417978insC (hg19) ; chr7:g.138733232_138733233insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138733239dup , CM000669.2:g.138733239dup	GRCh38
NC_000007.13:g.138417984dup , CM000669.1:g.138417984dup	GRCh37
NC_000007.12:g.138068524dup	NCBI36
NG_008145.1:g.69964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1692-140dup MANE Select	ENSP00000308122.2:n.1692-140dup
ENST00000478480.2:c.918-140dup	ENSP00000495261.1:n.918-140dup
ENST00000644341.1:c.918-140dup	ENSP00000495642.1:n.918-140dup
ENST00000645515.1:c.1692-140dup	ENSP00000496421.1:n.1692-140dup
ENST00000647427.1:c.585-140dup	ENSP00000496259.1:n.585-140dup
ENST00000310018.6:c.1692-140dup	ENSP00000308122.2:n.1692-140dup
ENST00000353492.4:c.1692-140dup	ENSP00000253856.6:n.1692-140dup
ENST00000393054.5:c.1692-140dup	ENSP00000376774.1:n.1692-140dup
NM_020632.2:c.1692-140dup	NP_065683.2:n.1692-140dup
NM_130840.2:c.1692-140dup	NP_570855.2:n.1692-140dup
NM_130841.2:c.1692-140dup	NP_570856.2:n.1692-140dup
XM_005250393.1:c.1692-140dup	XP_005250450.1:n.1692-140dup
XM_005250394.2:c.1692-140dup	XP_005250451.1:n.1692-140dup
XM_005250394.3:c.1692-140dup	XP_005250451.1:n.1692-140dup
NM_020632.3:c.1692-140dup MANE Select	NP_065683.2:n.1692-140dup
NM_130840.3:c.1692-140dup	NP_570855.2:n.1692-140dup
NM_130841.3:c.1692-140dup	NP_570856.2:n.1692-140dup