Canonical Allele Identifier: CA1293259214
Gene: LRP1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.140963270_140963271delinsCA , CM000664.2:g.140963270_140963271delinsCA GRCh38
NC_000002.11:g.141720839_141720840delinsCA , CM000664.1:g.141720839_141720840delinsCA GRCh37
NC_000002.10:g.141437309_141437310delinsCA NCBI36
NG_051023.1:g.1174193_1174194delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000389484.8:c.2888-11331_2888-11330delinsTG MANE Select ENSP00000374135.3:n.2888-11331_2888-11330delinsTG
ENST00000389484.7:c.2888-11331_2888-11330delinsTG ENSP00000374135.3:n.2888-11331_2888-11330delinsTG
ENST00000434794.1:c.323-11331_323-11330delinsTG ENSP00000413239.1:n.323-11331_323-11330delinsTG
ENST00000618808.4:c.2546-11331_2546-11330delinsTG ENSP00000478868.1:n.2546-11331_2546-11330delinsTG
NM_018557.2:c.2888-11331_2888-11330delinsTG NP_061027.2:n.2888-11331_2888-11330delinsTG
XM_011511352.1:c.2999-11331_2999-11330delinsTG XP_011509654.1:n.2999-11331_2999-11330delinsTG
XM_017004341.1:c.2498-11331_2498-11330delinsTG XP_016859830.1:n.2498-11331_2498-11330delinsTG
XR_001738778.1:n.4622-11331_4622-11330delinsTG
NM_018557.3:c.2888-11331_2888-11330delinsTG MANE Select NP_061027.2:n.2888-11331_2888-11330delinsTG