Canonical Allele Identifier: CA4504617

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs764823481
• ExAC: 7:138417610 TAGC / T
• gnomAD v2: 7-138417610-TAGC-T
• gnomAD v3: 7-138732865-TAGC-T
• gnomAD v4: 7-138732865-TAGC-T
• MyVariant Identifiers: chr7:g.138417611_138417613del (hg19) ; chr7:g.138732867_138732869del (hg38) ; chr7:g.138732866_138732868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732868_138732870del , CM000669.2:g.138732868_138732870del	GRCh38
NC_000007.13:g.138417613_138417615del , CM000669.1:g.138417613_138417615del	GRCh37
NC_000007.12:g.138068153_138068155del	NCBI36
NG_008145.1:g.70329_70331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1908+9_1908+11del MANE Select	ENSP00000308122.2:n.1908+9_1908+11del
ENST00000478480.2:c.1134+9_1134+11del	ENSP00000495261.1:n.1134+9_1134+11del
ENST00000644341.1:c.1134+9_1134+11del	ENSP00000495642.1:n.1134+9_1134+11del
ENST00000645515.1:c.1908+9_1908+11del	ENSP00000496421.1:n.1908+9_1908+11del
ENST00000647427.1:c.801+9_801+11del	ENSP00000496259.1:n.801+9_801+11del
ENST00000310018.6:c.1908+9_1908+11del	ENSP00000308122.2:n.1908+9_1908+11del
ENST00000353492.4:c.1908+9_1908+11del	ENSP00000253856.6:n.1908+9_1908+11del
ENST00000393054.5:c.1908+9_1908+11del	ENSP00000376774.1:n.1908+9_1908+11del
NM_020632.2:c.1908+9_1908+11del	NP_065683.2:n.1908+9_1908+11del
NM_130840.2:c.1908+9_1908+11del	NP_570855.2:n.1908+9_1908+11del
NM_130841.2:c.1908+9_1908+11del	NP_570856.2:n.1908+9_1908+11del
XM_005250393.1:c.1908+9_1908+11del	XP_005250450.1:n.1908+9_1908+11del
XM_005250394.2:c.1908+9_1908+11del	XP_005250451.1:n.1908+9_1908+11del
XM_005250394.3:c.1908+9_1908+11del	XP_005250451.1:n.1908+9_1908+11del
NM_020632.3:c.1908+9_1908+11del MANE Select	NP_065683.2:n.1908+9_1908+11del
NM_130840.3:c.1908+9_1908+11del	NP_570855.2:n.1908+9_1908+11del
NM_130841.3:c.1908+9_1908+11del	NP_570856.2:n.1908+9_1908+11del