Canonical Allele Identifier: CA2830536198
Gene: ATP13A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193467503_193467504insG , CM000665.2:g.193467503_193467504insG GRCh38
NC_000003.11:g.193185292_193185293insG , CM000665.1:g.193185292_193185293insG GRCh37
NC_000003.10:g.194667986_194667987insG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.944-18_944-17insC MANE Select ENSP00000339182.4:n.944-18_944-17insC
ENST00000295548.3:c.944-18_944-17insC ENSP00000295548.3:n.944-18_944-17insC
ENST00000342695.8:c.944-18_944-17insC ENSP00000339182.4:n.944-18_944-17insC
ENST00000392443.7:c.944-18_944-17insC ENSP00000376238.3:n.944-18_944-17insC
ENST00000450950.6:c.*387-18_*387-17insC ENSP00000402023.2:n.*387-18_*387-17insC
ENST00000490925.5:n.1052-18_1052-17insC
NM_032279.3:c.944-18_944-17insC NP_115655.2:n.944-18_944-17insC
XM_005247829.2:c.944-18_944-17insC XP_005247886.1:n.944-18_944-17insC
XM_011513232.1:c.944-18_944-17insC XP_011511534.1:n.944-18_944-17insC
XR_241512.2:n.1245-18_1245-17insC
XR_924191.1:n.1245-18_1245-17insC
XM_011513232.2:c.944-18_944-17insC XP_011511534.1:n.944-18_944-17insC
XM_017007318.1:c.617-18_617-17insC XP_016862807.1:n.617-18_617-17insC
XM_017007319.1:c.944-18_944-17insC XP_016862808.1:n.944-18_944-17insC
XR_001740324.2:n.1014-18_1014-17insC
XR_001740325.1:n.1014-18_1014-17insC
XR_002959602.1:n.1178-18_1178-17insC
XR_924191.3:n.1014-18_1014-17insC
NM_032279.4:c.944-18_944-17insC MANE Select NP_115655.2:n.944-18_944-17insC