Canonical Allele Identifier: CA1746763268

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706718_138706724delinsCTGTTGT , CM000669.2:g.138706718_138706724delinsCTGTTGT	GRCh38
NC_000007.13:g.138391463_138391469delinsCTGTTGT , CM000669.1:g.138391463_138391469delinsCTGTTGT	GRCh37
NC_000007.12:g.138042003_138042009delinsCTGTTGT	NCBI36
NG_008145.1:g.96473_96479delinsACAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.2430-7_2430-1delinsACAACAG MANE Select	ENSP00000308122.2:n.2430-7_2430-1delinsACAACAG
ENST00000478480.2:c.1366-7_1366-1delinsACAACAG	ENSP00000495261.1:n.1366-7_1366-1delinsACAACAG
ENST00000644341.1:c.1656-7_1656-1delinsACAACAG	ENSP00000495642.1:n.1656-7_1656-1delinsACAACAG
ENST00000645515.1:c.2430-7_2430-1delinsACAACAG	ENSP00000496421.1:n.2430-7_2430-1delinsACAACAG
ENST00000647427.1:c.1205-7_1205-1delinsACAACAG	ENSP00000496259.1:n.1205-7_1205-1delinsACAACAG
ENST00000310018.6:c.2430-7_2430-1delinsACAACAG	ENSP00000308122.2:n.2430-7_2430-1delinsACAACAG
ENST00000353492.4:c.2430-7_2430-1delinsACAACAG	ENSP00000253856.6:n.2430-7_2430-1delinsACAACAG
ENST00000393054.5:c.2430-7_2430-1delinsACAACAG	ENSP00000376774.1:n.2430-7_2430-1delinsACAACAG
NM_020632.2:c.2430-7_2430-1delinsACAACAG	NP_065683.2:n.2430-7_2430-1delinsACAACAG
NM_130840.2:c.2430-7_2430-1delinsACAACAG	NP_570855.2:n.2430-7_2430-1delinsACAACAG
NM_130841.2:c.2430-7_2430-1delinsACAACAG	NP_570856.2:n.2430-7_2430-1delinsACAACAG
XM_005250393.1:c.2430-7_2430-1delinsACAACAG	XP_005250450.1:n.2430-7_2430-1delinsACAACAG
XM_005250394.2:c.2430-7_2430-1delinsACAACAG	XP_005250451.1:n.2430-7_2430-1delinsACAACAG
XM_005250394.3:c.2430-7_2430-1delinsACAACAG	XP_005250451.1:n.2430-7_2430-1delinsACAACAG
NM_020632.3:c.2430-7_2430-1delinsACAACAG MANE Select	NP_065683.2:n.2430-7_2430-1delinsACAACAG
NM_130840.3:c.2430-7_2430-1delinsACAACAG	NP_570855.2:n.2430-7_2430-1delinsACAACAG
NM_130841.3:c.2430-7_2430-1delinsACAACAG	NP_570856.2:n.2430-7_2430-1delinsACAACAG