Canonical Allele Identifier: CA2961502360

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986898dup , CM000663.2:g.16986898dup	GRCh38
NC_000001.10:g.17313393dup , CM000663.1:g.17313393dup	GRCh37
NC_000001.9:g.17185980dup	NCBI36
NG_009054.1:g.30031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3142dup MANE Select	ENSP00000327214.8:p.Thr1048AsnfsTer?
ENST00000326735.12:c.3142dup	ENSP00000327214.8:p.Thr1048AsnfsTer?
ENST00000341676.9:c.3010dup	ENSP00000341115.5:p.Thr1004AsnfsTer?
ENST00000452699.5:c.3127dup	ENSP00000413307.1:p.Thr1043AsnfsTer?
ENST00000466561.1:n.1016dup
ENST00000502418.1:c.730dup	ENSP00000423065.1:p.Thr244AsnfsTer?
NM_001141973.2:c.3127dup	NP_001135445.1:p.Thr1043AsnfsTer?
NM_001141974.2:c.3010dup	NP_001135446.1:p.Thr1004AsnfsTer?
NM_022089.3:c.3142dup	NP_071372.1:p.Thr1048AsnfsTer?
XM_005245809.1:c.3142dup	XP_005245866.1:p.Thr1048AsnfsTer?
XM_005245810.1:c.3139dup	XP_005245867.1:p.Thr1047AsnfsTer?
XM_005245811.1:c.3127dup	XP_005245868.1:p.Thr1043AsnfsTer?
XM_005245812.1:c.3115dup	XP_005245869.1:p.Thr1039AsnfsTer?
XM_005245813.1:c.3082dup	XP_005245870.1:p.Thr1028AsnfsTer?
XM_005245815.1:c.3025dup	XP_005245872.1:p.Thr1009AsnfsTer?
XM_006710512.1:c.3124dup	XP_006710575.1:p.Thr1042AsnfsTer?
XM_006710513.1:c.3100dup	XP_006710576.1:p.Thr1034AsnfsTer?
XM_011541128.1:c.3127dup	XP_011539430.1:p.Thr1043AsnfsTer?
XM_011541129.1:c.2935dup	XP_011539431.1:p.Thr979AsnfsTer?
XM_017000844.1:c.3127dup	XP_016856333.1:p.Thr1043AsnfsTer?
XM_017000845.1:c.3124dup	XP_016856334.1:p.Thr1042AsnfsTer?
XM_017000846.1:c.3100dup	XP_016856335.1:p.Thr1034AsnfsTer?
XM_017000847.1:c.3097dup	XP_016856336.1:p.Thr1033AsnfsTer?
XM_017000848.1:c.3025dup	XP_016856337.1:p.Thr1009AsnfsTer?
XM_017000849.1:c.3010dup	XP_016856338.1:p.Thr1004AsnfsTer?
XM_017000850.1:c.2935dup	XP_016856339.1:p.Thr979AsnfsTer?
NM_022089.4:c.3142dup MANE Select	NP_071372.1:p.Thr1048AsnfsTer?
NM_001141973.3:c.3127dup	NP_001135445.1:p.Thr1043AsnfsTer?
NM_001141974.3:c.3010dup	NP_001135446.1:p.Thr1004AsnfsTer?