Canonical Allele Identifier: CA16043958
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs1057519290

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986889_16986891del , CM000663.2:g.16986889_16986891del GRCh38
NC_000001.10:g.17313384_17313386del , CM000663.1:g.17313384_17313386del GRCh37
NC_000001.9:g.17185971_17185973del NCBI36
NG_009054.1:g.30041_30043del

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3152_3154del MANE Select ENSP00000327214.8:p.Phe1051del
ENST00000326735.12:c.3152_3154del ENSP00000327214.8:p.Phe1051del
ENST00000341676.9:c.3020_3022del ENSP00000341115.5:p.Phe1007del
ENST00000452699.5:c.3137_3139del ENSP00000413307.1:p.Phe1046del
ENST00000466561.1:n.1026_1028del
ENST00000502418.1:n.740_742del ENSP00000423065.1:p.Phe247del
NM_001141973.2:c.3137_3139del NP_001135445.1:p.Phe1046del
NM_001141974.2:c.3020_3022del NP_001135446.1:p.Phe1007del
NM_022089.3:c.3152_3154del NP_071372.1:p.Phe1051del
XM_005245809.1:c.3152_3154del XP_005245866.1:p.Phe1051del
XM_005245810.1:c.3149_3151del XP_005245867.1:p.Phe1050del
XM_005245811.1:c.3137_3139del XP_005245868.1:p.Phe1046del
XM_005245812.1:c.3125_3127del XP_005245869.1:p.Phe1042del
XM_005245813.1:c.3092_3094del XP_005245870.1:p.Phe1031del
XM_005245815.1:c.3035_3037del XP_005245872.1:p.Phe1012del
XM_006710512.1:c.3134_3136del XP_006710575.1:p.Phe1045del
XM_006710513.1:c.3110_3112del XP_006710576.1:p.Phe1037del
XM_011541128.1:c.3137_3139del XP_011539430.1:p.Phe1046del
XM_011541129.1:c.2945_2947del XP_011539431.1:p.Phe982del
XM_017000844.1:c.3137_3139del XP_016856333.1:p.Phe1046del
XM_017000845.1:c.3134_3136del XP_016856334.1:p.Phe1045del
XM_017000846.1:c.3110_3112del XP_016856335.1:p.Phe1037del
XM_017000847.1:c.3107_3109del XP_016856336.1:p.Phe1036del
XM_017000848.1:c.3035_3037del XP_016856337.1:p.Phe1012del
XM_017000849.1:c.3020_3022del XP_016856338.1:p.Phe1007del
XM_017000850.1:c.2945_2947del XP_016856339.1:p.Phe982del
NM_022089.4:c.3152_3154del MANE Select NP_071372.1:p.Phe1051del
NM_001141973.3:c.3137_3139del NP_001135445.1:p.Phe1046del
NM_001141974.3:c.3020_3022del NP_001135446.1:p.Phe1007del