Canonical Allele Identifier: CA1107807729

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1805086398
• gnomAD v3: 7-138732792-T-TA
• gnomAD v4: 7-138732792-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732792_138732793insA , CM000669.2:g.138732792_138732793insA	GRCh38
NC_000007.13:g.138417537_138417538insA , CM000669.1:g.138417537_138417538insA	GRCh37
NC_000007.12:g.138068077_138068078insA	NCBI36
NG_008145.1:g.70404_70405insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1908+84_1908+85insT MANE Select	ENSP00000308122.2:n.1908+84_1908+85insT
ENST00000478480.2:c.1134+84_1134+85insT	ENSP00000495261.1:n.1134+84_1134+85insT
ENST00000644341.1:c.1134+84_1134+85insT	ENSP00000495642.1:n.1134+84_1134+85insT
ENST00000645515.1:c.1908+84_1908+85insT	ENSP00000496421.1:n.1908+84_1908+85insT
ENST00000647427.1:c.801+84_801+85insT	ENSP00000496259.1:n.801+84_801+85insT
ENST00000310018.6:c.1908+84_1908+85insT	ENSP00000308122.2:n.1908+84_1908+85insT
ENST00000353492.4:c.1908+84_1908+85insT	ENSP00000253856.6:n.1908+84_1908+85insT
ENST00000393054.5:c.1908+84_1908+85insT	ENSP00000376774.1:n.1908+84_1908+85insT
NM_020632.2:c.1908+84_1908+85insT	NP_065683.2:n.1908+84_1908+85insT
NM_130840.2:c.1908+84_1908+85insT	NP_570855.2:n.1908+84_1908+85insT
NM_130841.2:c.1908+84_1908+85insT	NP_570856.2:n.1908+84_1908+85insT
XM_005250393.1:c.1908+84_1908+85insT	XP_005250450.1:n.1908+84_1908+85insT
XM_005250394.2:c.1908+84_1908+85insT	XP_005250451.1:n.1908+84_1908+85insT
XM_005250394.3:c.1908+84_1908+85insT	XP_005250451.1:n.1908+84_1908+85insT
NM_020632.3:c.1908+84_1908+85insT MANE Select	NP_065683.2:n.1908+84_1908+85insT
NM_130840.3:c.1908+84_1908+85insT	NP_570855.2:n.1908+84_1908+85insT
NM_130841.3:c.1908+84_1908+85insT	NP_570856.2:n.1908+84_1908+85insT