Canonical Allele Identifier: CA1746763693

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706493_138706495delinsTAC , CM000669.2:g.138706493_138706495delinsTAC	GRCh38
NC_000007.13:g.138391238_138391240delinsTAC , CM000669.1:g.138391238_138391240delinsTAC	GRCh37
NC_000007.12:g.138041778_138041780delinsTAC	NCBI36
NG_008145.1:g.96702_96704delinsGTA
NG_051552.1:g.53_55delinsGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*129_*131delinsGTA MANE Select	ENSP00000308122.2:n.*129_*131delinsGTA
ENST00000478480.2:c.*217_*219delinsGTA	ENSP00000495261.1:n.*217_*219delinsGTA
ENST00000644341.1:c.*129_*131delinsGTA	ENSP00000495642.1:n.*129_*131delinsGTA
ENST00000645515.1:c.*129_*131delinsGTA	ENSP00000496421.1:n.*129_*131delinsGTA
ENST00000647427.1:c.1427_1429delinsGTA	ENSP00000496259.1:n.1427_1429delinsGTA
ENST00000310018.6:c.*129_*131delinsGTA	ENSP00000308122.2:n.*129_*131delinsGTA
ENST00000393054.5:c.*129_*131delinsGTA	ENSP00000376774.1:n.*129_*131delinsGTA
NM_020632.2:c.*129_*131delinsGTA	NP_065683.2:n.*129_*131delinsGTA
NM_130840.2:c.*129_*131delinsGTA	NP_570855.2:n.*129_*131delinsGTA
NM_130841.2:c.*129_*131delinsGTA	NP_570856.2:n.*129_*131delinsGTA
XM_005250393.1:c.*129_*131delinsGTA	XP_005250450.1:n.*129_*131delinsGTA
XM_005250394.2:c.*129_*131delinsGTA	XP_005250451.1:n.*129_*131delinsGTA
XM_005250394.3:c.*129_*131delinsGTA	XP_005250451.1:n.*129_*131delinsGTA
NM_020632.3:c.*129_*131delinsGTA MANE Select	NP_065683.2:n.*129_*131delinsGTA
NM_130840.3:c.*129_*131delinsGTA	NP_570855.2:n.*129_*131delinsGTA
NM_130841.3:c.*129_*131delinsGTA	NP_570856.2:n.*129_*131delinsGTA