Canonical Allele Identifier: CA117292
Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 5153
ClinVar RCV Id: RCV000005460
dbSNP Id: rs587776616

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
ENST00000310018.7:c.105del MANE Select ENSP00000308122.2:p.Gln36SerfsTer5
ENST00000645515.1:c.105del ENSP00000496421.1: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
NM_020632.2:c.105del NP_065683.2:p.Gln36SerfsTer5
NM_130840.2:c.105del NP_570855.2:p.Gln36SerfsTer5
NM_130841.2:c.105del NP_570856.2: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
NM_020632.3:c.105del MANE Select NP_065683.2:p.Gln36SerfsTer5
NM_130840.3:c.105del NP_570855.2:p.Gln36SerfsTer5
NM_130841.3:c.105del NP_570856.2:p.Gln36SerfsTer5