Canonical Allele Identifier: CA117292

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138771144del , CM000669.2:g.138771144del	GRCh38
NC_000007.13:g.138455889del , CM000669.1:g.138455889del	GRCh37
NC_000007.12:g.138106429del	NCBI36
NG_008145.1:g.32054del

Transcript Alleles

HGVS	Amino-acid Change
NM_020632.3:c.105del MANE Select	NP_065683.2:p.Gln36SerfsTer5
ENST00000310018.7:c.105del MANE Select	ENSP00000308122.2:p.Gln36SerfsTer5
NM_020632.2:c.105del	NP_065683.2:p.Gln36SerfsTer5
NM_130840.2:c.105del	NP_570855.2:p.Gln36SerfsTer5
NM_130840.3:c.105del	NP_570855.2:p.Gln36SerfsTer5
NM_130841.2:c.105del	NP_570856.2:p.Gln36SerfsTer5
NM_130841.3:c.105del	NP_570856.2:p.Gln36SerfsTer5
ENST00000310018.6:c.105del	ENSP00000308122.2:p.Gln36SerfsTer5
ENST00000353492.4:c.105del	ENSP00000253856.6:p.Gln36SerfsTer5
ENST00000393054.5:c.105del	ENSP00000376774.1:p.Gln36SerfsTer5
ENST00000483139.1:n.354del
ENST00000645515.1:c.105del	ENSP00000496421.1:p.Gln36SerfsTer5
XM_005250393.1:c.105del	XP_005250450.1:p.Gln36SerfsTer5
XM_005250394.2:c.105del	XP_005250451.1:p.Gln36SerfsTer5
XM_005250394.3:c.105del	XP_005250451.1:p.Gln36SerfsTer5