Canonical Allele Identifier: CA1746779954

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138739382_138739383delinsAC , CM000669.2:g.138739382_138739383delinsAC	GRCh38
NC_000007.13:g.138424127_138424128delinsAC , CM000669.1:g.138424127_138424128delinsAC	GRCh37
NC_000007.12:g.138074667_138074668delinsAC	NCBI36
NG_008145.1:g.63814_63815delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.1572+157_1572+158delinsGT MANE Select	ENSP00000308122.2:n.1572+157_1572+158deli...
ENST00000478480.2:c.798+157_798+158delinsGT	ENSP00000495261.1:n.798+157_798+158delins...
ENST00000644341.1:c.798+157_798+158delinsGT	ENSP00000495642.1:n.798+157_798+158delins...
ENST00000645515.1:c.1572+157_1572+158delinsGT	ENSP00000496421.1:n.1572+157_1572+158deli...
ENST00000647427.1:c.465+157_465+158delinsGT	ENSP00000496259.1:n.465+157_465+158delins...
ENST00000310018.6:c.1572+157_1572+158delinsGT	ENSP00000308122.2:n.1572+157_1572+158deli...
ENST00000353492.4:c.1572+157_1572+158delinsGT	ENSP00000253856.6:n.1572+157_1572+158deli...
ENST00000393054.5:c.1572+157_1572+158delinsGT	ENSP00000376774.1:n.1572+157_1572+158deli...
ENST00000471085.1:n.252-5129_252-5128delinsGT
NM_020632.2:c.1572+157_1572+158delinsGT	NP_065683.2:n.1572+157_1572+158delinsGT
NM_130840.2:c.1572+157_1572+158delinsGT	NP_570855.2:n.1572+157_1572+158delinsGT
NM_130841.2:c.1572+157_1572+158delinsGT	NP_570856.2:n.1572+157_1572+158delinsGT
XM_005250393.1:c.1572+157_1572+158delinsGT	XP_005250450.1:n.1572+157_1572+158delinsG...
XM_005250394.2:c.1572+157_1572+158delinsGT	XP_005250451.1:n.1572+157_1572+158delinsG...
XM_005250394.3:c.1572+157_1572+158delinsGT	XP_005250451.1:n.1572+157_1572+158delinsG...
NM_020632.3:c.1572+157_1572+158delinsGT MANE Select	NP_065683.2:n.1572+157_1572+158delinsGT
NM_130840.3:c.1572+157_1572+158delinsGT	NP_570855.2:n.1572+157_1572+158delinsGT
NM_130841.3:c.1572+157_1572+158delinsGT	NP_570856.2:n.1572+157_1572+158delinsGT