Canonical Allele Identifier: CA2574234704

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996487del , CM000663.2:g.16996487del	GRCh38
NC_000001.10:g.17322982del , CM000663.1:g.17322982del	GRCh37
NC_000001.9:g.17195569del	NCBI36
NG_009054.1:g.20442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1205del MANE Select	ENSP00000327214.8:p.Thr402ArgfsTer7
ENST00000326735.12:c.1205del	ENSP00000327214.8:p.Thr402ArgfsTer7
ENST00000341676.9:c.1190del	ENSP00000341115.5:p.Thr397ArgfsTer7
ENST00000452699.5:c.1190del	ENSP00000413307.1:p.Thr397ArgfsTer7
ENST00000463860.5:n.813del
ENST00000502860.1:n.335-187del
ENST00000506174.5:c.356-9del	ENSP00000424393.1:n.356-9del
ENST00000509392.1:n.208del
ENST00000617114.4:c.335-187del	ENSP00000478781.1:n.335-187del
NM_001141973.2:c.1190del	NP_001135445.1:p.Thr397ArgfsTer7
NM_001141974.2:c.1190del	NP_001135446.1:p.Thr397ArgfsTer7
NM_022089.3:c.1205del	NP_071372.1:p.Thr402ArgfsTer7
XM_005245809.1:c.1205del	XP_005245866.1:p.Thr402ArgfsTer7
XM_005245810.1:c.1202del	XP_005245867.1:p.Thr401ArgfsTer7
XM_005245811.1:c.1190del	XP_005245868.1:p.Thr397ArgfsTer7
XM_005245812.1:c.1178del	XP_005245869.1:p.Thr393ArgfsTer7
XM_005245813.1:c.1205del	XP_005245870.1:p.Thr402ArgfsTer7
XM_005245815.1:c.1205del	XP_005245872.1:p.Thr402ArgfsTer7
XM_006710512.1:c.1187del	XP_006710575.1:p.Thr396ArgfsTer7
XM_006710513.1:c.1163del	XP_006710576.1:p.Thr388ArgfsTer7
XM_011541128.1:c.1205del	XP_011539430.1:p.Thr402ArgfsTer7
XM_011541129.1:c.1205del	XP_011539431.1:p.Thr402ArgfsTer7
XM_017000844.1:c.1205del	XP_016856333.1:p.Thr402ArgfsTer7
XM_017000845.1:c.1187del	XP_016856334.1:p.Thr396ArgfsTer7
XM_017000846.1:c.1163del	XP_016856335.1:p.Thr388ArgfsTer7
XM_017000847.1:c.1175del	XP_016856336.1:p.Thr392ArgfsTer7
XM_017000848.1:c.1205del	XP_016856337.1:p.Thr402ArgfsTer7
XM_017000849.1:c.1190del	XP_016856338.1:p.Thr397ArgfsTer7
XM_017000850.1:c.1205del	XP_016856339.1:p.Thr402ArgfsTer7
NM_022089.4:c.1205del MANE Select	NP_071372.1:p.Thr402ArgfsTer7
NM_001141973.3:c.1190del	NP_001135445.1:p.Thr397ArgfsTer7
NM_001141974.3:c.1190del	NP_001135446.1:p.Thr397ArgfsTer7