Canonical Allele Identifier: CA2580060617

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1878290
• ClinVar RCV Id: RCV002510343

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986589del , CM000663.2:g.16986589del	GRCh38
NC_000001.10:g.17313084del , CM000663.1:g.17313084del	GRCh37
NC_000001.9:g.17185671del	NCBI36
NG_009054.1:g.30342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3281del MANE Select	ENSP00000327214.8:p.Gly1094AlafsTer15
ENST00000326735.12:c.3281del	ENSP00000327214.8:p.Gly1094AlafsTer15
ENST00000341676.9:c.3103+218del	ENSP00000341115.5:n.3103+218del
ENST00000452699.5:c.3266del	ENSP00000413307.1:p.Gly1089AlafsTer15
ENST00000466561.1:n.1327del
ENST00000502418.1:c.823+218del	ENSP00000423065.1:n.823+218del
NM_001141973.2:c.3266del	NP_001135445.1:p.Gly1089AlafsTer15
NM_001141974.2:c.3103+218del	NP_001135446.1:n.3103+218del
NM_022089.3:c.3281del	NP_071372.1:p.Gly1094AlafsTer15
XM_005245809.1:c.3235+218del	XP_005245866.1:n.3235+218del
XM_005245810.1:c.3232+218del	XP_005245867.1:n.3232+218del
XM_005245811.1:c.3220+218del	XP_005245868.1:n.3220+218del
XM_005245812.1:c.3208+218del	XP_005245869.1:n.3208+218del
XM_005245813.1:c.3175+218del	XP_005245870.1:n.3175+218del
XM_005245815.1:c.3118+218del	XP_005245872.1:n.3118+218del
XM_006710512.1:c.3217+218del	XP_006710575.1:n.3217+218del
XM_006710513.1:c.3193+218del	XP_006710576.1:n.3193+218del
XM_011541128.1:c.3220+218del	XP_011539430.1:n.3220+218del
XM_011541129.1:c.3028+218del	XP_011539431.1:n.3028+218del
XM_017000844.1:c.3266del	XP_016856333.1:p.Gly1089AlafsTer15
XM_017000845.1:c.3263del	XP_016856334.1:p.Gly1088AlafsTer15
XM_017000846.1:c.3239del	XP_016856335.1:p.Gly1080AlafsTer15
XM_017000847.1:c.3236del	XP_016856336.1:p.Gly1079AlafsTer15
XM_017000848.1:c.3164del	XP_016856337.1:p.Gly1055AlafsTer15
XM_017000849.1:c.3149del	XP_016856338.1:p.Gly1050AlafsTer15
XM_017000850.1:c.3074del	XP_016856339.1:p.Gly1025AlafsTer15
NM_022089.4:c.3281del MANE Select	NP_071372.1:p.Gly1094AlafsTer15
NM_001141973.3:c.3266del	NP_001135445.1:p.Gly1089AlafsTer15
NM_001141974.3:c.3103+218del	NP_001135446.1:n.3103+218del