Canonical Allele Identifier: CA2961503157

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989756dup , CM000663.2:g.16989756dup	GRCh38
NC_000001.10:g.17316251dup , CM000663.1:g.17316251dup	GRCh37
NC_000001.9:g.17188838dup	NCBI36
NG_009054.1:g.27173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2544dup MANE Select	ENSP00000327214.8:p.Thr849HisfsTer9
ENST00000326735.12:c.2544dup	ENSP00000327214.8:p.Thr849HisfsTer9
ENST00000341676.9:c.2412dup	ENSP00000341115.5:p.Thr805HisfsTer9
ENST00000452699.5:c.2529dup	ENSP00000413307.1:p.Thr844HisfsTer9
ENST00000466561.1:n.418dup
ENST00000502418.1:c.132dup	ENSP00000423065.1:p.Thr45HisfsTer9
NM_001141973.2:c.2529dup	NP_001135445.1:p.Thr844HisfsTer9
NM_001141974.2:c.2412dup	NP_001135446.1:p.Thr805HisfsTer9
NM_022089.3:c.2544dup	NP_071372.1:p.Thr849HisfsTer9
XM_005245809.1:c.2544dup	XP_005245866.1:p.Thr849HisfsTer9
XM_005245810.1:c.2541dup	XP_005245867.1:p.Thr848HisfsTer9
XM_005245811.1:c.2529dup	XP_005245868.1:p.Thr844HisfsTer9
XM_005245812.1:c.2517dup	XP_005245869.1:p.Thr840HisfsTer9
XM_005245813.1:c.2484dup	XP_005245870.1:p.Thr829HisfsTer9
XM_005245815.1:c.2427dup	XP_005245872.1:p.Thr810HisfsTer9
XM_006710512.1:c.2526dup	XP_006710575.1:p.Thr843HisfsTer9
XM_006710513.1:c.2502dup	XP_006710576.1:p.Thr835HisfsTer9
XM_011541128.1:c.2529dup	XP_011539430.1:p.Thr844HisfsTer9
XM_011541129.1:c.2337dup	XP_011539431.1:p.Thr780HisfsTer9
XM_017000844.1:c.2529dup	XP_016856333.1:p.Thr844HisfsTer9
XM_017000845.1:c.2526dup	XP_016856334.1:p.Thr843HisfsTer9
XM_017000846.1:c.2502dup	XP_016856335.1:p.Thr835HisfsTer9
XM_017000847.1:c.2499dup	XP_016856336.1:p.Thr834HisfsTer9
XM_017000848.1:c.2427dup	XP_016856337.1:p.Thr810HisfsTer9
XM_017000849.1:c.2412dup	XP_016856338.1:p.Thr805HisfsTer9
XM_017000850.1:c.2337dup	XP_016856339.1:p.Thr780HisfsTer9
NM_022089.4:c.2544dup MANE Select	NP_071372.1:p.Thr849HisfsTer9
NM_001141973.3:c.2529dup	NP_001135445.1:p.Thr844HisfsTer9
NM_001141974.3:c.2412dup	NP_001135446.1:p.Thr805HisfsTer9