Canonical Allele Identifier: CA757915204

Gene: LRP1B

Linked Data

• dbSNP Id: rs1237313379
• gnomAD v3: 2-140963635-CT-C
• gnomAD v4: 2-140963635-CT-C
• MyVariant Identifiers: chr2:g.141721205del (hg19) ; chr2:g.140963636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.140963636del , CM000664.2:g.140963636del	GRCh38
NC_000002.11:g.141721205del , CM000664.1:g.141721205del	GRCh37
NC_000002.10:g.141437675del	NCBI36
NG_051023.1:g.1173828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389484.8:c.2888-11696del MANE Select	ENSP00000374135.3:n.2888-11696del
ENST00000389484.7:c.2888-11696del	ENSP00000374135.3:n.2888-11696del
ENST00000434794.1:c.323-11696del	ENSP00000413239.1:n.323-11696del
ENST00000618808.4:c.2546-11696del	ENSP00000478868.1:n.2546-11696del
NM_018557.2:c.2888-11696del	NP_061027.2:n.2888-11696del
XM_011511352.1:c.2999-11696del	XP_011509654.1:n.2999-11696del
XM_017004341.1:c.2498-11696del	XP_016859830.1:n.2498-11696del
XR_001738778.1:n.4622-11696del
NM_018557.3:c.2888-11696del MANE Select	NP_061027.2:n.2888-11696del