Canonical Allele Identifier: CA1746790634

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762943_138762948delinsGTCAGT , CM000669.2:g.138762943_138762948delinsGTCAGT	GRCh38
NC_000007.13:g.138447688_138447693delinsGTCAGT , CM000669.1:g.138447688_138447693delinsGTCAGT	GRCh37
NC_000007.12:g.138098228_138098233delinsGTCAGT	NCBI36
NG_008145.1:g.40249_40254delinsACTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.369_374delinsACTGAC MANE Select	ENSP00000308122.2:p.Glu123=
ENST00000645515.1:c.369_374delinsACTGAC	ENSP00000496421.1:p.Glu123=
ENST00000310018.6:c.369_374delinsACTGAC	ENSP00000308122.2:p.Glu123=
ENST00000353492.4:c.369_374delinsACTGAC	ENSP00000253856.6:p.Glu123=
ENST00000393054.5:c.369_374delinsACTGAC	ENSP00000376774.1:p.Glu123=
ENST00000483139.1:n.618_623delinsACTGAC
NM_020632.2:c.369_374delinsACTGAC	NP_065683.2:p.Glu123=
NM_130840.2:c.369_374delinsACTGAC	NP_570855.2:p.Glu123=
NM_130841.2:c.369_374delinsACTGAC	NP_570856.2:p.Glu123=
XM_005250393.1:c.369_374delinsACTGAC	XP_005250450.1:p.Glu123=
XM_005250394.2:c.369_374delinsACTGAC	XP_005250451.1:p.Glu123=
XM_005250394.3:c.369_374delinsACTGAC	XP_005250451.1:p.Glu123=
NM_020632.3:c.369_374delinsACTGAC MANE Select	NP_065683.2:p.Glu123=
NM_130840.3:c.369_374delinsACTGAC	NP_570855.2:p.Glu123=
NM_130841.3:c.369_374delinsACTGAC	NP_570856.2:p.Glu123=