Canonical Allele Identifier: CA2580060620

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2179757
• ClinVar RCV Id: RCV002599306

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996141del , CM000663.2:g.16996141del	GRCh38
NC_000001.10:g.17322636del , CM000663.1:g.17322636del	GRCh37
NC_000001.9:g.17195223del	NCBI36
NG_009054.1:g.20789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1378del MANE Select	ENSP00000327214.8:p.Arg460GlyfsTer6
ENST00000326735.12:c.1378del	ENSP00000327214.8:p.Arg460GlyfsTer6
ENST00000341676.9:c.1363del	ENSP00000341115.5:p.Arg455GlyfsTer6
ENST00000452699.5:c.1363del	ENSP00000413307.1:p.Arg455GlyfsTer6
ENST00000463860.5:n.986del
ENST00000502860.1:n.406del
ENST00000503552.1:c.55del	ENSP00000421126.1:p.Arg19GlyfsTer6
ENST00000506174.5:c.520del	ENSP00000424393.1:p.Arg174GlyfsTer6
ENST00000509392.1:n.466del
ENST00000617114.4:c.406del	ENSP00000478781.1:p.Arg136GlyfsTer6
NM_001141973.2:c.1363del	NP_001135445.1:p.Arg455GlyfsTer6
NM_001141974.2:c.1363del	NP_001135446.1:p.Arg455GlyfsTer6
NM_022089.3:c.1378del	NP_071372.1:p.Arg460GlyfsTer6
XM_005245809.1:c.1378del	XP_005245866.1:p.Arg460GlyfsTer6
XM_005245810.1:c.1375del	XP_005245867.1:p.Arg459GlyfsTer6
XM_005245811.1:c.1363del	XP_005245868.1:p.Arg455GlyfsTer6
XM_005245812.1:c.1351del	XP_005245869.1:p.Arg451GlyfsTer6
XM_005245813.1:c.1378del	XP_005245870.1:p.Arg460GlyfsTer6
XM_005245815.1:c.1378del	XP_005245872.1:p.Arg460GlyfsTer6
XM_006710512.1:c.1360del	XP_006710575.1:p.Arg454GlyfsTer6
XM_006710513.1:c.1336del	XP_006710576.1:p.Arg446GlyfsTer6
XM_011541128.1:c.1378del	XP_011539430.1:p.Arg460GlyfsTer6
XM_011541129.1:c.1378del	XP_011539431.1:p.Arg460GlyfsTer6
XM_017000844.1:c.1378del	XP_016856333.1:p.Arg460GlyfsTer6
XM_017000845.1:c.1360del	XP_016856334.1:p.Arg454GlyfsTer6
XM_017000846.1:c.1336del	XP_016856335.1:p.Arg446GlyfsTer6
XM_017000847.1:c.1348del	XP_016856336.1:p.Arg450GlyfsTer6
XM_017000848.1:c.1378del	XP_016856337.1:p.Arg460GlyfsTer6
XM_017000849.1:c.1363del	XP_016856338.1:p.Arg455GlyfsTer6
XM_017000850.1:c.1378del	XP_016856339.1:p.Arg460GlyfsTer6
NM_022089.4:c.1378del MANE Select	NP_071372.1:p.Arg460GlyfsTer6
NM_001141973.3:c.1363del	NP_001135445.1:p.Arg455GlyfsTer6
NM_001141974.3:c.1363del	NP_001135446.1:p.Arg455GlyfsTer6