Canonical Allele Identifier: CA2586964000

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986905del , CM000663.2:g.16986905del	GRCh38
NC_000001.10:g.17313400del , CM000663.1:g.17313400del	GRCh37
NC_000001.9:g.17185987del	NCBI36
NG_009054.1:g.30024del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3135del MANE Select	ENSP00000327214.8:p.Tyr1045Ter
ENST00000326735.12:c.3135del	ENSP00000327214.8:p.Tyr1045Ter
ENST00000341676.9:c.3003del	ENSP00000341115.5:p.Tyr1001Ter
ENST00000452699.5:c.3120del	ENSP00000413307.1:p.Tyr1040Ter
ENST00000466561.1:n.1009del
ENST00000502418.1:c.723del	ENSP00000423065.1:p.Tyr241Ter
NM_001141973.2:c.3120del	NP_001135445.1:p.Tyr1040Ter
NM_001141974.2:c.3003del	NP_001135446.1:p.Tyr1001Ter
NM_022089.3:c.3135del	NP_071372.1:p.Tyr1045Ter
XM_005245809.1:c.3135del	XP_005245866.1:p.Tyr1045Ter
XM_005245810.1:c.3132del	XP_005245867.1:p.Tyr1044Ter
XM_005245811.1:c.3120del	XP_005245868.1:p.Tyr1040Ter
XM_005245812.1:c.3108del	XP_005245869.1:p.Tyr1036Ter
XM_005245813.1:c.3075del	XP_005245870.1:p.Tyr1025Ter
XM_005245815.1:c.3018del	XP_005245872.1:p.Tyr1006Ter
XM_006710512.1:c.3117del	XP_006710575.1:p.Tyr1039Ter
XM_006710513.1:c.3093del	XP_006710576.1:p.Tyr1031Ter
XM_011541128.1:c.3120del	XP_011539430.1:p.Tyr1040Ter
XM_011541129.1:c.2928del	XP_011539431.1:p.Tyr976Ter
XM_017000844.1:c.3120del	XP_016856333.1:p.Tyr1040Ter
XM_017000845.1:c.3117del	XP_016856334.1:p.Tyr1039Ter
XM_017000846.1:c.3093del	XP_016856335.1:p.Tyr1031Ter
XM_017000847.1:c.3090del	XP_016856336.1:p.Tyr1030Ter
XM_017000848.1:c.3018del	XP_016856337.1:p.Tyr1006Ter
XM_017000849.1:c.3003del	XP_016856338.1:p.Tyr1001Ter
XM_017000850.1:c.2928del	XP_016856339.1:p.Tyr976Ter
NM_022089.4:c.3135del MANE Select	NP_071372.1:p.Tyr1045Ter
NM_001141973.3:c.3120del	NP_001135445.1:p.Tyr1040Ter
NM_001141974.3:c.3003del	NP_001135446.1:p.Tyr1001Ter