Canonical Allele Identifier: CA1746776702

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732679_138732680delinsAG , CM000669.2:g.138732679_138732680delinsAG	GRCh38
NC_000007.13:g.138417424_138417425delinsAG , CM000669.1:g.138417424_138417425delinsAG	GRCh37
NC_000007.12:g.138067964_138067965delinsAG	NCBI36
NG_008145.1:g.70517_70518delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1908+197_1908+198delinsCT MANE Select	ENSP00000308122.2:n.1908+197_1908+198delinsCT
ENST00000478480.2:c.1134+197_1134+198delinsCT	ENSP00000495261.1:n.1134+197_1134+198delinsCT
ENST00000644341.1:c.1134+197_1134+198delinsCT	ENSP00000495642.1:n.1134+197_1134+198delinsCT
ENST00000645515.1:c.1908+197_1908+198delinsCT	ENSP00000496421.1:n.1908+197_1908+198delinsCT
ENST00000647427.1:c.801+197_801+198delinsCT	ENSP00000496259.1:n.801+197_801+198delinsCT
ENST00000310018.6:c.1908+197_1908+198delinsCT	ENSP00000308122.2:n.1908+197_1908+198delinsCT
ENST00000353492.4:c.1908+197_1908+198delinsCT	ENSP00000253856.6:n.1908+197_1908+198delinsCT
ENST00000393054.5:c.1908+197_1908+198delinsCT	ENSP00000376774.1:n.1908+197_1908+198delinsCT
NM_020632.2:c.1908+197_1908+198delinsCT	NP_065683.2:n.1908+197_1908+198delinsCT
NM_130840.2:c.1908+197_1908+198delinsCT	NP_570855.2:n.1908+197_1908+198delinsCT
NM_130841.2:c.1908+197_1908+198delinsCT	NP_570856.2:n.1908+197_1908+198delinsCT
XM_005250393.1:c.1908+197_1908+198delinsCT	XP_005250450.1:n.1908+197_1908+198delinsCT
XM_005250394.2:c.1908+197_1908+198delinsCT	XP_005250451.1:n.1908+197_1908+198delinsCT
XM_005250394.3:c.1908+197_1908+198delinsCT	XP_005250451.1:n.1908+197_1908+198delinsCT
NM_020632.3:c.1908+197_1908+198delinsCT MANE Select	NP_065683.2:n.1908+197_1908+198delinsCT
NM_130840.3:c.1908+197_1908+198delinsCT	NP_570855.2:n.1908+197_1908+198delinsCT
NM_130841.3:c.1908+197_1908+198delinsCT	NP_570856.2:n.1908+197_1908+198delinsCT