Canonical Allele Identifier: CA2752441298
Gene: LRP1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.140963431_140963432del , CM000664.2:g.140963431_140963432del GRCh38
NC_000002.11:g.141721000_141721001del , CM000664.1:g.141721000_141721001del GRCh37
NC_000002.10:g.141437470_141437471del NCBI36
NG_051023.1:g.1174033_1174034del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389484.8:c.2888-11491_2888-11490del MANE Select ENSP00000374135.3:n.2888-11491_2888-11490del
ENST00000389484.7:c.2888-11491_2888-11490del ENSP00000374135.3:n.2888-11491_2888-11490del
ENST00000434794.1:c.323-11491_323-11490del ENSP00000413239.1:n.323-11491_323-11490del
ENST00000618808.4:c.2546-11491_2546-11490del ENSP00000478868.1:n.2546-11491_2546-11490del
NM_018557.2:c.2888-11491_2888-11490del NP_061027.2:n.2888-11491_2888-11490del
XM_011511352.1:c.2999-11491_2999-11490del XP_011509654.1:n.2999-11491_2999-11490del
XM_017004341.1:c.2498-11491_2498-11490del XP_016859830.1:n.2498-11491_2498-11490del
XR_001738778.1:n.4622-11491_4622-11490del
NM_018557.3:c.2888-11491_2888-11490del MANE Select NP_061027.2:n.2888-11491_2888-11490del