Canonical Allele Identifier: CA276125

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 209135
• ClinVar RCV Id: RCV000191064 ; RCV000598141 ; RCV001378978
• dbSNP Id: rs749798211
• ExAC: 1:17331312 CCAGGCTGGGGAAG / C
• gnomAD v2: 1-17331312-CCAGGCTGGGGAAG-C
• gnomAD v3: 1-17004817-CCAGGCTGGGGAAG-C
• gnomAD v4: 1-17004817-CCAGGCTGGGGAAG-C
• MyVariant Identifiers: chr1:g.17331313_17331325del (hg19) ; chr1:g.17004818_17004830del (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

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:c.82-9_85del
ENST00000509619.1:c.325-9_328del
ENST00000510069.5:c.274-9_277del
ENST00000511957.5:c.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