Canonical Allele Identifier: CA2838329023
Gene: LRP1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.140963444_140963450del , CM000664.2:g.140963444_140963450del GRCh38
NC_000002.11:g.141721013_141721019del , CM000664.1:g.141721013_141721019del GRCh37
NC_000002.10:g.141437483_141437489del NCBI36
NG_051023.1:g.1174015_1174021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389484.8:c.2888-11509_2888-11503del MANE Select ENSP00000374135.3:n.2888-11509_2888-11503del
ENST00000389484.7:c.2888-11509_2888-11503del ENSP00000374135.3:n.2888-11509_2888-11503del
ENST00000434794.1:c.323-11509_323-11503del ENSP00000413239.1:n.323-11509_323-11503del
ENST00000618808.4:c.2546-11509_2546-11503del ENSP00000478868.1:n.2546-11509_2546-11503del
NM_018557.2:c.2888-11509_2888-11503del NP_061027.2:n.2888-11509_2888-11503del
XM_011511352.1:c.2999-11509_2999-11503del XP_011509654.1:n.2999-11509_2999-11503del
XM_017004341.1:c.2498-11509_2498-11503del XP_016859830.1:n.2498-11509_2498-11503del
XR_001738778.1:n.4622-11509_4622-11503del
NM_018557.3:c.2888-11509_2888-11503del MANE Select NP_061027.2:n.2888-11509_2888-11503del