Canonical Allele Identifier: CA276125
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209135
dbSNP Id: rs749798211

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17004822_17004834del , CM000663.2:g.17004822_17004834del GRCh38
NC_000001.10:g.17331317_17331329del , CM000663.1:g.17331317_17331329del GRCh37
NC_000001.9:g.17203904_17203916del NCBI36
NG_009054.1:g.12099_12111del

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.348-9_351del
ENST00000326735.12:c.348-9_351del
ENST00000341676.9:c.348-9_351del
ENST00000452699.5:c.348-9_351del
ENST00000508222.5:n.82-9_85del
ENST00000509619.1:n.325-9_328del
ENST00000510069.5:n.274-9_277del
ENST00000511957.5:n.60-9_63del
ENST00000617114.4:c.-499-9_-496del
NM_001141973.2:c.348-9_351del
NM_001141974.2:c.348-9_351del
NM_022089.3:c.348-9_351del
XM_005245809.1:c.348-9_351del
XM_005245810.1:c.348-9_351del
XM_005245811.1:c.348-9_351del
XM_005245812.1:c.348-9_351del
XM_005245813.1:c.348-9_351del
XM_005245815.1:c.348-9_351del
XM_006710512.1:c.348-9_351del
XM_006710513.1:c.348-9_351del
XM_011541128.1:c.348-9_351del
XM_011541129.1:c.348-9_351del
XM_017000844.1:c.348-9_351del
XM_017000845.1:c.348-9_351del
XM_017000846.1:c.348-9_351del
XM_017000847.1:c.348-9_351del
XM_017000848.1:c.348-9_351del
XM_017000849.1:c.348-9_351del
XM_017000850.1:c.348-9_351del
NM_022089.4:c.348-9_351del
NM_001141973.3:c.348-9_351del
NM_001141974.3:c.348-9_351del