Canonical Allele Identifier: CA1746763716

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706572_138706574delinsCTG , CM000669.2:g.138706572_138706574delinsCTG	GRCh38
NC_000007.13:g.138391317_138391319delinsCTG , CM000669.1:g.138391317_138391319delinsCTG	GRCh37
NC_000007.12:g.138041857_138041859delinsCTG	NCBI36
NG_008145.1:g.96623_96625delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*50_*52delinsCAG MANE Select	ENSP00000308122.2:n.*50_*52delinsCAG
ENST00000478480.2:c.*138_*140delinsCAG	ENSP00000495261.1:n.*138_*140delinsCAG
ENST00000644341.1:c.*50_*52delinsCAG	ENSP00000495642.1:n.*50_*52delinsCAG
ENST00000645515.1:c.*50_*52delinsCAG	ENSP00000496421.1:n.*50_*52delinsCAG
ENST00000647427.1:c.1348_1350delinsCAG	ENSP00000496259.1:n.1348_1350delinsCAG
ENST00000310018.6:c.*50_*52delinsCAG	ENSP00000308122.2:n.*50_*52delinsCAG
ENST00000353492.4:c.*50_*52delinsCAG	ENSP00000253856.6:n.*50_*52delinsCAG
ENST00000393054.5:c.*50_*52delinsCAG	ENSP00000376774.1:n.*50_*52delinsCAG
NM_020632.2:c.*50_*52delinsCAG	NP_065683.2:n.*50_*52delinsCAG
NM_130840.2:c.*50_*52delinsCAG	NP_570855.2:n.*50_*52delinsCAG
NM_130841.2:c.*50_*52delinsCAG	NP_570856.2:n.*50_*52delinsCAG
XM_005250393.1:c.*50_*52delinsCAG	XP_005250450.1:n.*50_*52delinsCAG
XM_005250394.2:c.*50_*52delinsCAG	XP_005250451.1:n.*50_*52delinsCAG
XM_005250394.3:c.*50_*52delinsCAG	XP_005250451.1:n.*50_*52delinsCAG
NM_020632.3:c.*50_*52delinsCAG MANE Select	NP_065683.2:n.*50_*52delinsCAG
NM_130840.3:c.*50_*52delinsCAG	NP_570855.2:n.*50_*52delinsCAG
NM_130841.3:c.*50_*52delinsCAG	NP_570856.2:n.*50_*52delinsCAG