Canonical Allele Identifier: CA2669096122
Gene: ATP13A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193448410_193448411del , CM000665.2:g.193448410_193448411del GRCh38
NC_000003.11:g.193166199_193166200del , CM000665.1:g.193166199_193166200del GRCh37
NC_000003.10:g.194648893_194648894del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.2028-81_2028-80del MANE Select ENSP00000339182.4:n.2028-81_2028-80del
ENST00000342695.8:c.2028-81_2028-80del ENSP00000339182.4:n.2028-81_2028-80del
ENST00000392443.7:c.1971-81_1971-80del ENSP00000376238.3:n.1971-81_1971-80del
ENST00000428352.5:c.947-81_947-80del
ENST00000450950.6:c.*1471-81_*1471-80del ENSP00000402023.2:n.*1471-81_*1471-80del
ENST00000490925.5:n.2136-81_2136-80del
NM_032279.3:c.2028-81_2028-80del NP_115655.2:n.2028-81_2028-80del
XM_005247829.2:c.2028-81_2028-80del XP_005247886.1:n.2028-81_2028-80del
XM_011513232.1:c.2028-81_2028-80del XP_011511534.1:n.2028-81_2028-80del
XR_241512.2:n.2329-81_2329-80del
XR_924191.1:n.2329-81_2329-80del
XM_011513232.2:c.2028-81_2028-80del XP_011511534.1:n.2028-81_2028-80del
XM_017007318.1:c.1701-81_1701-80del XP_016862807.1:n.1701-81_1701-80del
XM_017007319.1:c.2028-81_2028-80del XP_016862808.1:n.2028-81_2028-80del
XR_001740324.2:n.2098-81_2098-80del
XR_001740325.1:n.2098-81_2098-80del
XR_002959602.1:n.2262-81_2262-80del
XR_924191.3:n.2098-81_2098-80del
NM_032279.4:c.2028-81_2028-80del MANE Select NP_115655.2:n.2028-81_2028-80del