Canonical Allele Identifier: CA2740090611

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2943829
• ClinVar RCV Id: RCV003803387

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996254_16996255del , CM000663.2:g.16996254_16996255del	GRCh38
NC_000001.10:g.17322749_17322750del , CM000663.1:g.17322749_17322750del	GRCh37
NC_000001.9:g.17195336_17195337del	NCBI36
NG_009054.1:g.20675_20676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1353_1353+1del
ENST00000326735.12:c.1353_1353+1del
ENST00000341676.9:c.1338_1338+1del
ENST00000452699.5:c.1338_1338+1del
ENST00000463860.5:n.961_961+1del
ENST00000502860.1:n.381_381+1del
ENST00000503552.1:c.30_30+1del
ENST00000506174.5:c.495_495+1del
ENST00000509392.1:n.441_441+1del
ENST00000617114.4:c.381_381+1del
NM_001141973.2:c.1338_1338+1del
NM_001141974.2:c.1338_1338+1del
NM_022089.3:c.1353_1353+1del
XM_005245809.1:c.1353_1353+1del
XM_005245810.1:c.1350_1350+1del
XM_005245811.1:c.1338_1338+1del
XM_005245812.1:c.1326_1326+1del
XM_005245813.1:c.1353_1353+1del
XM_005245815.1:c.1353_1353+1del
XM_006710512.1:c.1335_1335+1del
XM_006710513.1:c.1311_1311+1del
XM_011541128.1:c.1353_1353+1del
XM_011541129.1:c.1353_1353+1del
XM_017000844.1:c.1353_1353+1del
XM_017000845.1:c.1335_1335+1del
XM_017000846.1:c.1311_1311+1del
XM_017000847.1:c.1323_1323+1del
XM_017000848.1:c.1353_1353+1del
XM_017000849.1:c.1338_1338+1del
XM_017000850.1:c.1353_1353+1del
NM_022089.4:c.1353_1353+1del
NM_001141973.3:c.1338_1338+1del
NM_001141974.3:c.1338_1338+1del