Canonical Allele Identifier: CA18625291
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs137853968

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986617del , CM000663.2:g.16986617del GRCh38
NC_000001.10:g.17313112del , CM000663.1:g.17313112del GRCh37
NC_000001.9:g.17185699del NCBI36
NG_009054.1:g.30314del

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3253del MANE Select ENSP00000327214.8:p.Leu1085TrpfsTer4
ENST00000326735.12:c.3253del ENSP00000327214.8:p.Leu1085TrpfsTer4
ENST00000341676.9:c.3103+190del ENSP00000341115.5:n.3103+190del
ENST00000452699.5:c.3238del ENSP00000413307.1:p.Leu1080TrpfsTer4
ENST00000466561.1:n.1299del
ENST00000502418.1:n.823+190del ENSP00000423065.1:n.823+190del
NM_001141973.2:c.3238del NP_001135445.1:p.Leu1080TrpfsTer4
NM_001141974.2:c.3103+190del NP_001135446.1:n.3103+190del
NM_022089.3:c.3253del NP_071372.1:p.Leu1085TrpfsTer4
XM_005245809.1:c.3235+190del XP_005245866.1:n.3235+190del
XM_005245810.1:c.3232+190del XP_005245867.1:n.3232+190del
XM_005245811.1:c.3220+190del XP_005245868.1:n.3220+190del
XM_005245812.1:c.3208+190del XP_005245869.1:n.3208+190del
XM_005245813.1:c.3175+190del XP_005245870.1:n.3175+190del
XM_005245815.1:c.3118+190del XP_005245872.1:n.3118+190del
XM_006710512.1:c.3217+190del XP_006710575.1:n.3217+190del
XM_006710513.1:c.3193+190del XP_006710576.1:n.3193+190del
XM_011541128.1:c.3220+190del XP_011539430.1:n.3220+190del
XM_011541129.1:c.3028+190del XP_011539431.1:n.3028+190del
XM_017000844.1:c.3238del XP_016856333.1:p.Leu1080TrpfsTer4
XM_017000845.1:c.3235del XP_016856334.1:p.Leu1079TrpfsTer4
XM_017000846.1:c.3211del XP_016856335.1:p.Leu1071TrpfsTer4
XM_017000847.1:c.3208del XP_016856336.1:p.Leu1070TrpfsTer4
XM_017000848.1:c.3136del XP_016856337.1:p.Leu1046TrpfsTer4
XM_017000849.1:c.3121del XP_016856338.1:p.Leu1041TrpfsTer4
XM_017000850.1:c.3046del XP_016856339.1:p.Leu1016TrpfsTer4
NM_022089.4:c.3253del MANE Select NP_071372.1:p.Leu1085TrpfsTer4
NM_001141973.3:c.3238del NP_001135445.1:p.Leu1080TrpfsTer4
NM_001141974.3:c.3103+190del NP_001135446.1:n.3103+190del