Canonical Allele Identifier: CA2742637224

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996009dup , CM000663.2:g.16996009dup	GRCh38
NC_000001.10:g.17322504dup , CM000663.1:g.17322504dup	GRCh37
NC_000001.9:g.17195091dup	NCBI36
NG_009054.1:g.20925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1514dup MANE Select	ENSP00000327214.8:p.Lys506GlnfsTer15
ENST00000326735.12:c.1514dup	ENSP00000327214.8:p.Lys506GlnfsTer15
ENST00000341676.9:c.1499dup	ENSP00000341115.5:p.Lys501GlnfsTer15
ENST00000452699.5:c.1499dup	ENSP00000413307.1:p.Lys501GlnfsTer15
ENST00000463860.5:n.1122dup
ENST00000502860.1:n.542dup
ENST00000503552.1:c.191dup	ENSP00000421126.1:p.Lys65GlnfsTer?
ENST00000617114.4:c.542dup	ENSP00000478781.1:p.Lys182GlnfsTer?
NM_001141973.2:c.1499dup	NP_001135445.1:p.Lys501GlnfsTer15
NM_001141974.2:c.1499dup	NP_001135446.1:p.Lys501GlnfsTer15
NM_022089.3:c.1514dup	NP_071372.1:p.Lys506GlnfsTer15
XM_005245809.1:c.1514dup	XP_005245866.1:p.Lys506GlnfsTer15
XM_005245810.1:c.1511dup	XP_005245867.1:p.Lys505GlnfsTer15
XM_005245811.1:c.1499dup	XP_005245868.1:p.Lys501GlnfsTer15
XM_005245812.1:c.1487dup	XP_005245869.1:p.Lys497GlnfsTer15
XM_005245813.1:c.1514dup	XP_005245870.1:p.Lys506GlnfsTer15
XM_005245815.1:c.1514dup	XP_005245872.1:p.Lys506GlnfsTer15
XM_006710512.1:c.1496dup	XP_006710575.1:p.Lys500GlnfsTer15
XM_006710513.1:c.1472dup	XP_006710576.1:p.Lys492GlnfsTer15
XM_011541128.1:c.1514dup	XP_011539430.1:p.Lys506GlnfsTer10
XM_011541129.1:c.1514dup	XP_011539431.1:p.Lys506GlnfsTer?
XM_017000844.1:c.1514dup	XP_016856333.1:p.Lys506GlnfsTer10
XM_017000845.1:c.1496dup	XP_016856334.1:p.Lys500GlnfsTer15
XM_017000846.1:c.1472dup	XP_016856335.1:p.Lys492GlnfsTer15
XM_017000847.1:c.1484dup	XP_016856336.1:p.Lys496GlnfsTer10
XM_017000848.1:c.1514dup	XP_016856337.1:p.Lys506GlnfsTer15
XM_017000849.1:c.1499dup	XP_016856338.1:p.Lys501GlnfsTer15
XM_017000850.1:c.1514dup	XP_016856339.1:p.Lys506GlnfsTer?
NM_022089.4:c.1514dup MANE Select	NP_071372.1:p.Lys506GlnfsTer15
NM_001141973.3:c.1499dup	NP_001135445.1:p.Lys501GlnfsTer15
NM_001141974.3:c.1499dup	NP_001135446.1:p.Lys501GlnfsTer15