Canonical Allele Identifier: CA578621985

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1429219620
• gnomAD v2: 7-138417984-CAG-C
• gnomAD v3: 7-138733239-CAG-C
• gnomAD v4: 7-138733239-CAG-C
• MyVariant Identifiers: chr7:g.138417985_138417986del (hg19) ; chr7:g.138733240_138733241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138733240_138733241del , CM000669.2:g.138733240_138733241del	GRCh38
NC_000007.13:g.138417985_138417986del , CM000669.1:g.138417985_138417986del	GRCh37
NC_000007.12:g.138068525_138068526del	NCBI36
NG_008145.1:g.69956_69957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1692-148_1692-147del MANE Select	ENSP00000308122.2:n.1692-148_1692-147del
ENST00000478480.2:c.918-148_918-147del	ENSP00000495261.1:n.918-148_918-147del
ENST00000644341.1:c.918-148_918-147del	ENSP00000495642.1:n.918-148_918-147del
ENST00000645515.1:c.1692-148_1692-147del	ENSP00000496421.1:n.1692-148_1692-147del
ENST00000647427.1:c.585-148_585-147del	ENSP00000496259.1:n.585-148_585-147del
ENST00000310018.6:c.1692-148_1692-147del	ENSP00000308122.2:n.1692-148_1692-147del
ENST00000353492.4:c.1692-148_1692-147del	ENSP00000253856.6:n.1692-148_1692-147del
ENST00000393054.5:c.1692-148_1692-147del	ENSP00000376774.1:n.1692-148_1692-147del
NM_020632.2:c.1692-148_1692-147del	NP_065683.2:n.1692-148_1692-147del
NM_130840.2:c.1692-148_1692-147del	NP_570855.2:n.1692-148_1692-147del
NM_130841.2:c.1692-148_1692-147del	NP_570856.2:n.1692-148_1692-147del
XM_005250393.1:c.1692-148_1692-147del	XP_005250450.1:n.1692-148_1692-147del
XM_005250394.2:c.1692-148_1692-147del	XP_005250451.1:n.1692-148_1692-147del
XM_005250394.3:c.1692-148_1692-147del	XP_005250451.1:n.1692-148_1692-147del
NM_020632.3:c.1692-148_1692-147del MANE Select	NP_065683.2:n.1692-148_1692-147del
NM_130840.3:c.1692-148_1692-147del	NP_570855.2:n.1692-148_1692-147del
NM_130841.3:c.1692-148_1692-147del	NP_570856.2:n.1692-148_1692-147del