Canonical Allele Identifier: CA2574234387

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996013_16996026del , CM000663.2:g.16996013_16996026del	GRCh38
NC_000001.10:g.17322508_17322521del , CM000663.1:g.17322508_17322521del	GRCh37
NC_000001.9:g.17195095_17195108del	NCBI36
NG_009054.1:g.20905_20918del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.1494_1507del MANE Select	ENSP00000327214.8:p.Leu499GlyfsTer17
ENST00000326735.12:c.1494_1507del	ENSP00000327214.8:p.Leu499GlyfsTer17
ENST00000341676.9:c.1479_1492del	ENSP00000341115.5:p.Leu494GlyfsTer17
ENST00000452699.5:c.1479_1492del	ENSP00000413307.1:p.Leu494GlyfsTer17
ENST00000463860.5:n.1102_1115del
ENST00000502860.1:n.522_535del
ENST00000503552.1:c.171_184del	ENSP00000421126.1:p.Leu58GlyfsTer?
ENST00000617114.4:c.522_535del	ENSP00000478781.1:p.Leu175GlyfsTer?
NM_001141973.2:c.1479_1492del	NP_001135445.1:p.Leu494GlyfsTer17
NM_001141974.2:c.1479_1492del	NP_001135446.1:p.Leu494GlyfsTer17
NM_022089.3:c.1494_1507del	NP_071372.1:p.Leu499GlyfsTer17
XM_005245809.1:c.1494_1507del	XP_005245866.1:p.Leu499GlyfsTer17
XM_005245810.1:c.1491_1504del	XP_005245867.1:p.Leu498GlyfsTer17
XM_005245811.1:c.1479_1492del	XP_005245868.1:p.Leu494GlyfsTer17
XM_005245812.1:c.1467_1480del	XP_005245869.1:p.Leu490GlyfsTer17
XM_005245813.1:c.1494_1507del	XP_005245870.1:p.Leu499GlyfsTer17
XM_005245815.1:c.1494_1507del	XP_005245872.1:p.Leu499GlyfsTer17
XM_006710512.1:c.1476_1489del	XP_006710575.1:p.Leu493GlyfsTer17
XM_006710513.1:c.1452_1465del	XP_006710576.1:p.Leu485GlyfsTer17
XM_011541128.1:c.1494_1507del	XP_011539430.1:p.Leu499GlyfsTer12
XM_011541129.1:c.1494_1507del	XP_011539431.1:p.Leu499GlyfsTer?
XM_017000844.1:c.1494_1507del	XP_016856333.1:p.Leu499GlyfsTer12
XM_017000845.1:c.1476_1489del	XP_016856334.1:p.Leu493GlyfsTer17
XM_017000846.1:c.1452_1465del	XP_016856335.1:p.Leu485GlyfsTer17
XM_017000847.1:c.1464_1477del	XP_016856336.1:p.Leu489GlyfsTer12
XM_017000848.1:c.1494_1507del	XP_016856337.1:p.Leu499GlyfsTer17
XM_017000849.1:c.1479_1492del	XP_016856338.1:p.Leu494GlyfsTer17
XM_017000850.1:c.1494_1507del	XP_016856339.1:p.Leu499GlyfsTer?
NM_022089.4:c.1494_1507del MANE Select	NP_071372.1:p.Leu499GlyfsTer17
NM_001141973.3:c.1479_1492del	NP_001135445.1:p.Leu494GlyfsTer17
NM_001141974.3:c.1479_1492del	NP_001135446.1:p.Leu494GlyfsTer17