Canonical Allele Identifier: CA167108485

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs748851973
• gnomAD v2: 7-138424213-TTTC-T
• gnomAD v3: 7-138739468-TTTC-T
• gnomAD v4: 7-138739468-TTTC-T
• MyVariant Identifiers: chr7:g.138424214_138424216del (hg19) ; chr7:g.138739469_138739471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138739473_138739475del , CM000669.2:g.138739473_138739475del	GRCh38
NC_000007.13:g.138424218_138424220del , CM000669.1:g.138424218_138424220del	GRCh37
NC_000007.12:g.138074758_138074760del	NCBI36
NG_008145.1:g.63726_63728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.1572+69_1572+71del MANE Select	ENSP00000308122.2:n.1572+69_1572+71del
ENST00000478480.2:c.798+69_798+71del	ENSP00000495261.1:n.798+69_798+71del
ENST00000644341.1:c.798+69_798+71del	ENSP00000495642.1:n.798+69_798+71del
ENST00000645515.1:c.1572+69_1572+71del	ENSP00000496421.1:n.1572+69_1572+71del
ENST00000647427.1:c.465+69_465+71del	ENSP00000496259.1:n.465+69_465+71del
ENST00000310018.6:c.1572+69_1572+71del	ENSP00000308122.2:n.1572+69_1572+71del
ENST00000353492.4:c.1572+69_1572+71del	ENSP00000253856.6:n.1572+69_1572+71del
ENST00000393054.5:c.1572+69_1572+71del	ENSP00000376774.1:n.1572+69_1572+71del
ENST00000471085.1:n.252-5217_252-5215del
NM_020632.2:c.1572+69_1572+71del	NP_065683.2:n.1572+69_1572+71del
NM_130840.2:c.1572+69_1572+71del	NP_570855.2:n.1572+69_1572+71del
NM_130841.2:c.1572+69_1572+71del	NP_570856.2:n.1572+69_1572+71del
XM_005250393.1:c.1572+69_1572+71del	XP_005250450.1:n.1572+69_1572+71del
XM_005250394.2:c.1572+69_1572+71del	XP_005250451.1:n.1572+69_1572+71del
XM_005250394.3:c.1572+69_1572+71del	XP_005250451.1:n.1572+69_1572+71del
NM_020632.3:c.1572+69_1572+71del MANE Select	NP_065683.2:n.1572+69_1572+71del
NM_130840.3:c.1572+69_1572+71del	NP_570855.2:n.1572+69_1572+71del
NM_130841.3:c.1572+69_1572+71del	NP_570856.2:n.1572+69_1572+71del