Canonical Allele Identifier: CA2580611142

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1803735
• ClinVar RCV Id: RCV002467405

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996397_16996398del , CM000663.2:g.16996397_16996398del	GRCh38
NC_000001.10:g.17322892_17322893del , CM000663.1:g.17322892_17322893del	GRCh37
NC_000001.9:g.17195479_17195480del	NCBI36
NG_009054.1:g.20535_20536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1298_1299del MANE Select	ENSP00000327214.8:p.Ser433CysfsTer23
ENST00000326735.12:c.1298_1299del	ENSP00000327214.8:p.Ser433CysfsTer23
ENST00000341676.9:c.1283_1284del	ENSP00000341115.5:p.Ser428CysfsTer23
ENST00000452699.5:c.1283_1284del	ENSP00000413307.1:p.Ser428CysfsTer23
ENST00000463860.5:n.906_907del
ENST00000502860.1:n.335-94_335-93del
ENST00000506174.5:c.440_441del	ENSP00000424393.1:p.Ser147CysfsTer23
ENST00000509392.1:n.301_302del
ENST00000617114.4:c.335-94_335-93del	ENSP00000478781.1:n.335-94_335-93del
NM_001141973.2:c.1283_1284del	NP_001135445.1:p.Ser428CysfsTer23
NM_001141974.2:c.1283_1284del	NP_001135446.1:p.Ser428CysfsTer23
NM_022089.3:c.1298_1299del	NP_071372.1:p.Ser433CysfsTer23
XM_005245809.1:c.1298_1299del	XP_005245866.1:p.Ser433CysfsTer23
XM_005245810.1:c.1295_1296del	XP_005245867.1:p.Ser432CysfsTer23
XM_005245811.1:c.1283_1284del	XP_005245868.1:p.Ser428CysfsTer23
XM_005245812.1:c.1271_1272del	XP_005245869.1:p.Ser424CysfsTer23
XM_005245813.1:c.1298_1299del	XP_005245870.1:p.Ser433CysfsTer23
XM_005245815.1:c.1298_1299del	XP_005245872.1:p.Ser433CysfsTer23
XM_006710512.1:c.1280_1281del	XP_006710575.1:p.Ser427CysfsTer23
XM_006710513.1:c.1256_1257del	XP_006710576.1:p.Ser419CysfsTer23
XM_011541128.1:c.1298_1299del	XP_011539430.1:p.Ser433CysfsTer23
XM_011541129.1:c.1298_1299del	XP_011539431.1:p.Ser433CysfsTer23
XM_017000844.1:c.1298_1299del	XP_016856333.1:p.Ser433CysfsTer23
XM_017000845.1:c.1280_1281del	XP_016856334.1:p.Ser427CysfsTer23
XM_017000846.1:c.1256_1257del	XP_016856335.1:p.Ser419CysfsTer23
XM_017000847.1:c.1268_1269del	XP_016856336.1:p.Ser423CysfsTer23
XM_017000848.1:c.1298_1299del	XP_016856337.1:p.Ser433CysfsTer23
XM_017000849.1:c.1283_1284del	XP_016856338.1:p.Ser428CysfsTer23
XM_017000850.1:c.1298_1299del	XP_016856339.1:p.Ser433CysfsTer23
NM_022089.4:c.1298_1299del MANE Select	NP_071372.1:p.Ser433CysfsTer23
NM_001141973.3:c.1283_1284del	NP_001135445.1:p.Ser428CysfsTer23
NM_001141974.3:c.1283_1284del	NP_001135446.1:p.Ser428CysfsTer23