Canonical Allele Identifier: CA518277228
Community Standard Title: NM_005032.7(PLS3):c.501-190_501-178del
Gene: PLS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.115633810_115633822del , CM000685.2:g.115633810_115633822del GRCh38
NC_000023.10:g.114868122_114868134del , CM000685.1:g.114868122_114868134del GRCh37
NC_000023.9:g.114774378_114774390del NCBI36
NG_012518.2:g.77932_77944del

Transcript Alleles

HGVS Amino-acid Change
NM_005032.7:c.501-190_501-178del MANE Select NP_005023.2:n.501-190_501-178del
ENST00000355899.8:c.501-190_501-178del MANE Select ENSP00000348163.3:n.501-190_501-178del
NM_001136025.4:c.501-190_501-178del NP_001129497.1:n.501-190_501-178del
NM_001136025.5:c.501-190_501-178del NP_001129497.1:n.501-190_501-178del
NM_001172335.2:c.420-190_420-178del NP_001165806.1:n.420-190_420-178del
NM_001172335.3:c.420-190_420-178del NP_001165806.1:n.420-190_420-178del
NM_001282337.1:c.435-190_435-178del NP_001269266.1:n.435-190_435-178del
NM_001282337.2:c.435-190_435-178del NP_001269266.1:n.435-190_435-178del
NM_001282338.1:c.366-190_366-178del NP_001269267.1:n.366-190_366-178del
NM_001282338.2:c.366-190_366-178del NP_001269267.1:n.366-190_366-178del
NM_005032.6:c.501-190_501-178del NP_005023.2:n.501-190_501-178del
ENST00000289290.7:c.435-190_435-178del ENSP00000289290.4:n.435-190_435-178del
ENST00000355899.7:c.501-190_501-178del ENSP00000348163.3:n.501-190_501-178del
ENST00000420625.6:c.435-190_435-178del ENSP00000398945.3:n.435-190_435-178del
ENST00000473026.6:c.411-190_411-178del ENSP00000475900.1:n.411-190_411-178del
ENST00000481823.5:c.*754-190_*754-178del ENSP00000419051.1:n.*754-190_*754-178del
ENST00000539310.5:c.501-190_501-178del ENSP00000445339.2:n.501-190_501-178del
XM_011537534.1:c.501-190_501-178del XP_011535836.1:n.501-190_501-178del