Canonical Allele Identifier: CA2580612552

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2572413
• ClinVar RCV Id: RCV003314298

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989751_16989761del , CM000663.2:g.16989751_16989761del	GRCh38
NC_000001.10:g.17316246_17316256del , CM000663.1:g.17316246_17316256del	GRCh37
NC_000001.9:g.17188833_17188843del	NCBI36
NG_009054.1:g.27169_27179del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2540_2550del MANE Select	ENSP00000327214.8:p.Gln847LeufsTer7
ENST00000326735.12:c.2540_2550del	ENSP00000327214.8:p.Gln847LeufsTer7
ENST00000341676.9:c.2408_2418del	ENSP00000341115.5:p.Gln803LeufsTer7
ENST00000452699.5:c.2525_2535del	ENSP00000413307.1:p.Gln842LeufsTer7
ENST00000466561.1:n.414_424del
ENST00000502418.1:c.128_138del	ENSP00000423065.1:p.Gln43LeufsTer7
NM_001141973.2:c.2525_2535del	NP_001135445.1:p.Gln842LeufsTer7
NM_001141974.2:c.2408_2418del	NP_001135446.1:p.Gln803LeufsTer7
NM_022089.3:c.2540_2550del	NP_071372.1:p.Gln847LeufsTer7
XM_005245809.1:c.2540_2550del	XP_005245866.1:p.Gln847LeufsTer7
XM_005245810.1:c.2537_2547del	XP_005245867.1:p.Gln846LeufsTer7
XM_005245811.1:c.2525_2535del	XP_005245868.1:p.Gln842LeufsTer7
XM_005245812.1:c.2513_2523del	XP_005245869.1:p.Gln838LeufsTer7
XM_005245813.1:c.2480_2490del	XP_005245870.1:p.Gln827LeufsTer7
XM_005245815.1:c.2423_2433del	XP_005245872.1:p.Gln808LeufsTer7
XM_006710512.1:c.2522_2532del	XP_006710575.1:p.Gln841LeufsTer7
XM_006710513.1:c.2498_2508del	XP_006710576.1:p.Gln833LeufsTer7
XM_011541128.1:c.2525_2535del	XP_011539430.1:p.Gln842LeufsTer7
XM_011541129.1:c.2333_2343del	XP_011539431.1:p.Gln778LeufsTer7
XM_017000844.1:c.2525_2535del	XP_016856333.1:p.Gln842LeufsTer7
XM_017000845.1:c.2522_2532del	XP_016856334.1:p.Gln841LeufsTer7
XM_017000846.1:c.2498_2508del	XP_016856335.1:p.Gln833LeufsTer7
XM_017000847.1:c.2495_2505del	XP_016856336.1:p.Gln832LeufsTer7
XM_017000848.1:c.2423_2433del	XP_016856337.1:p.Gln808LeufsTer7
XM_017000849.1:c.2408_2418del	XP_016856338.1:p.Gln803LeufsTer7
XM_017000850.1:c.2333_2343del	XP_016856339.1:p.Gln778LeufsTer7
NM_022089.4:c.2540_2550del MANE Select	NP_071372.1:p.Gln847LeufsTer7
NM_001141973.3:c.2525_2535del	NP_001135445.1:p.Gln842LeufsTer7
NM_001141974.3:c.2408_2418del	NP_001135446.1:p.Gln803LeufsTer7