Canonical Allele Identifier: CA1156048738
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs2076704063

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986056_16986057del , CM000663.2:g.16986056_16986057del GRCh38
NC_000001.10:g.17312551_17312552del , CM000663.1:g.17312551_17312552del GRCh37
NC_000001.9:g.17185138_17185139del NCBI36
NG_009054.1:g.30872_30873del
NG_029688.1:g.530_531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.*164_*165del MANE Select ENSP00000327214.8:n.*164_*165del
ENST00000326735.12:c.*164_*165del ENSP00000327214.8:n.*164_*165del
ENST00000341676.9:c.3405_3406del ENSP00000341115.5:p.Tyr1135Ter
ENST00000452699.5:c.*164_*165del ENSP00000413307.1:n.*164_*165del
ENST00000466561.1:n.1753_1754del
ENST00000502418.1:c.1125_1126del ENSP00000423065.1:p.Tyr375Ter
NM_001141973.2:c.*164_*165del NP_001135445.1:n.*164_*165del
NM_001141974.2:c.3405_3406del NP_001135446.1:p.Tyr1135Ter
NM_022089.3:c.*164_*165del NP_071372.1:n.*164_*165del
XM_005245809.1:c.3537_3538del XP_005245866.1:p.Tyr1179Ter
XM_005245810.1:c.3534_3535del XP_005245867.1:p.Tyr1178Ter
XM_005245811.1:c.3522_3523del XP_005245868.1:p.Tyr1174Ter
XM_005245812.1:c.3510_3511del XP_005245869.1:p.Tyr1170Ter
XM_005245813.1:c.3477_3478del XP_005245870.1:p.Tyr1159Ter
XM_005245815.1:c.3420_3421del XP_005245872.1:p.Tyr1140Ter
XM_006710512.1:c.3519_3520del XP_006710575.1:p.Tyr1173Ter
XM_006710513.1:c.3495_3496del XP_006710576.1:p.Tyr1165Ter
XM_011541128.1:c.3522_3523del XP_011539430.1:p.Tyr1174Ter
XM_011541129.1:c.3330_3331del XP_011539431.1:p.Tyr1110Ter
XM_017000844.1:c.*164_*165del XP_016856333.1:n.*164_*165del
XM_017000845.1:c.*164_*165del XP_016856334.1:n.*164_*165del
XM_017000846.1:c.*164_*165del XP_016856335.1:n.*164_*165del
XM_017000847.1:c.*164_*165del XP_016856336.1:n.*164_*165del
XM_017000848.1:c.*164_*165del XP_016856337.1:n.*164_*165del
XM_017000849.1:c.*164_*165del XP_016856338.1:n.*164_*165del
XM_017000850.1:c.*164_*165del XP_016856339.1:n.*164_*165del
NM_022089.4:c.*164_*165del MANE Select NP_071372.1:n.*164_*165del
NM_001141973.3:c.*164_*165del NP_001135445.1:n.*164_*165del
NM_001141974.3:c.3405_3406del NP_001135446.1:p.Tyr1135Ter