Canonical Allele Identifier: CA2832535256

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996478_16996479dup , CM000663.2:g.16996478_16996479dup	GRCh38
NC_000001.10:g.17322973_17322974dup , CM000663.1:g.17322973_17322974dup	GRCh37
NC_000001.9:g.17195560_17195561dup	NCBI36
NG_009054.1:g.20453_20454dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1216_1217dup MANE Select	ENSP00000327214.8:p.Leu407AlafsTer3
ENST00000326735.12:c.1216_1217dup	ENSP00000327214.8:p.Leu407AlafsTer3
ENST00000341676.9:c.1201_1202dup	ENSP00000341115.5:p.Leu402AlafsTer3
ENST00000452699.5:c.1201_1202dup	ENSP00000413307.1:p.Leu402AlafsTer3
ENST00000463860.5:n.824_825dup
ENST00000502860.1:n.335-176_335-175dup
ENST00000506174.5:c.358_359dup
ENST00000509392.1:n.219_220dup
ENST00000617114.4:c.335-176_335-175dup	ENSP00000478781.1:n.335-176_335-175dup
NM_001141973.2:c.1201_1202dup	NP_001135445.1:p.Leu402AlafsTer3
NM_001141974.2:c.1201_1202dup	NP_001135446.1:p.Leu402AlafsTer3
NM_022089.3:c.1216_1217dup	NP_071372.1:p.Leu407AlafsTer3
XM_005245809.1:c.1216_1217dup	XP_005245866.1:p.Leu407AlafsTer3
XM_005245810.1:c.1213_1214dup	XP_005245867.1:p.Leu406AlafsTer3
XM_005245811.1:c.1201_1202dup	XP_005245868.1:p.Leu402AlafsTer3
XM_005245812.1:c.1189_1190dup	XP_005245869.1:p.Leu398AlafsTer3
XM_005245813.1:c.1216_1217dup	XP_005245870.1:p.Leu407AlafsTer3
XM_005245815.1:c.1216_1217dup	XP_005245872.1:p.Leu407AlafsTer3
XM_006710512.1:c.1198_1199dup	XP_006710575.1:p.Leu401AlafsTer3
XM_006710513.1:c.1174_1175dup	XP_006710576.1:p.Leu393AlafsTer3
XM_011541128.1:c.1216_1217dup	XP_011539430.1:p.Leu407AlafsTer3
XM_011541129.1:c.1216_1217dup	XP_011539431.1:p.Leu407AlafsTer3
XM_017000844.1:c.1216_1217dup	XP_016856333.1:p.Leu407AlafsTer3
XM_017000845.1:c.1198_1199dup	XP_016856334.1:p.Leu401AlafsTer3
XM_017000846.1:c.1174_1175dup	XP_016856335.1:p.Leu393AlafsTer3
XM_017000847.1:c.1186_1187dup	XP_016856336.1:p.Leu397AlafsTer3
XM_017000848.1:c.1216_1217dup	XP_016856337.1:p.Leu407AlafsTer3
XM_017000849.1:c.1201_1202dup	XP_016856338.1:p.Leu402AlafsTer3
XM_017000850.1:c.1216_1217dup	XP_016856339.1:p.Leu407AlafsTer3
NM_022089.4:c.1216_1217dup MANE Select	NP_071372.1:p.Leu407AlafsTer3
NM_001141973.3:c.1201_1202dup	NP_001135445.1:p.Leu402AlafsTer3
NM_001141974.3:c.1201_1202dup	NP_001135446.1:p.Leu402AlafsTer3