Canonical Allele Identifier: CA2752441306
Gene: LRP1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.140963711_140963714del , CM000664.2:g.140963711_140963714del GRCh38
NC_000002.11:g.141721280_141721283del , CM000664.1:g.141721280_141721283del GRCh37
NC_000002.10:g.141437750_141437753del NCBI36
NG_051023.1:g.1173750_1173753del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389484.8:c.2888-11774_2888-11771del MANE Select ENSP00000374135.3:n.2888-11774_2888-11771del
ENST00000389484.7:c.2888-11774_2888-11771del ENSP00000374135.3:n.2888-11774_2888-11771del
ENST00000434794.1:c.323-11774_323-11771del ENSP00000413239.1:n.323-11774_323-11771del
ENST00000618808.4:c.2546-11774_2546-11771del ENSP00000478868.1:n.2546-11774_2546-11771del
NM_018557.2:c.2888-11774_2888-11771del NP_061027.2:n.2888-11774_2888-11771del
XM_011511352.1:c.2999-11774_2999-11771del XP_011509654.1:n.2999-11774_2999-11771del
XM_017004341.1:c.2498-11774_2498-11771del XP_016859830.1:n.2498-11774_2498-11771del
XR_001738778.1:n.4622-11774_4622-11771del
NM_018557.3:c.2888-11774_2888-11771del MANE Select NP_061027.2:n.2888-11774_2888-11771del