Canonical Allele Identifier: CA1293294981
Gene: LRP1B HGNC NCBI

Linked Data

dbSNP Id: rs1698590631

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.141038136_141038137del , CM000664.2:g.141038136_141038137del GRCh38
NC_000002.11:g.141795705_141795706del , CM000664.1:g.141795705_141795706del GRCh37
NC_000002.10:g.141512175_141512176del NCBI36
NG_051023.1:g.1099327_1099328del

Transcript Alleles

HGVS Amino-acid change
ENST00000389484.8:c.1789+10849_1789+10850del MANE Select ENSP00000374135.3:n.1789+10849_1789+10850del
ENST00000389484.7:c.1789+10849_1789+10850del ENSP00000374135.3:n.1789+10849_1789+10850del
ENST00000434794.1:c.206-55861_206-55860del ENSP00000413239.1:n.206-55861_206-55860del
ENST00000618808.4:c.1447+10849_1447+10850del ENSP00000478868.1:n.1447+10849_1447+10850del
NM_018557.2:c.1789+10849_1789+10850del NP_061027.2:n.1789+10849_1789+10850del
XM_011511352.1:c.1900+10849_1900+10850del XP_011509654.1:n.1900+10849_1900+10850del
XM_017004341.1:c.1399+10849_1399+10850del XP_016859830.1:n.1399+10849_1399+10850del
XR_001738778.1:n.3523+10849_3523+10850del
NM_018557.3:c.1789+10849_1789+10850del MANE Select NP_061027.2:n.1789+10849_1789+10850del