Canonical Allele Identifier: CA1746763187

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706632_138706633delinsCG , CM000669.2:g.138706632_138706633delinsCG	GRCh38
NC_000007.13:g.138391377_138391378delinsCG , CM000669.1:g.138391377_138391378delinsCG	GRCh37
NC_000007.12:g.138041917_138041918delinsCG	NCBI36
NG_008145.1:g.96564_96565delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.2514_2515delinsCG MANE Select	ENSP00000308122.2:p.Ala838=
ENST00000478480.2:c.*79_*80delinsCG	ENSP00000495261.1:n.*79_*80delinsCG
ENST00000644341.1:c.1740_1741delinsCG	ENSP00000495642.1:p.Ala580=
ENST00000645515.1:c.2514_2515delinsCG	ENSP00000496421.1:p.Ala838=
ENST00000647427.1:c.1289_1290delinsCG	ENSP00000496259.1:n.1289_1290delinsCG
ENST00000310018.6:c.2514_2515delinsCG	ENSP00000308122.2:p.Ala838=
ENST00000353492.4:c.2514_2515delinsCG	ENSP00000253856.6:p.Ala838=
ENST00000393054.5:c.2514_2515delinsCG	ENSP00000376774.1:p.Ala838=
NM_020632.2:c.2514_2515delinsCG	NP_065683.2:p.Ala838=
NM_130840.2:c.2514_2515delinsCG	NP_570855.2:p.Ala838=
NM_130841.2:c.2514_2515delinsCG	NP_570856.2:p.Ala838=
XM_005250393.1:c.2514_2515delinsCG	XP_005250450.1:p.Ala838=
XM_005250394.2:c.2514_2515delinsCG	XP_005250451.1:p.Ala838=
XM_005250394.3:c.2514_2515delinsCG	XP_005250451.1:p.Ala838=
NM_020632.3:c.2514_2515delinsCG MANE Select	NP_065683.2:p.Ala838=
NM_130840.3:c.2514_2515delinsCG	NP_570855.2:p.Ala838=
NM_130841.3:c.2514_2515delinsCG	NP_570856.2:p.Ala838=