Canonical Allele Identifier: CA757909365

Gene: LRP1B

Linked Data

• dbSNP Id: rs1169807900
• gnomAD v3: 2-141037855-GAC-G
• gnomAD v4: 2-141037855-GAC-G
• MyVariant Identifiers: chr2:g.141795425_141795426del (hg19) ; chr2:g.141037856_141037857del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.141037863_141037864del , CM000664.2:g.141037863_141037864del	GRCh38
NC_000002.11:g.141795432_141795433del , CM000664.1:g.141795432_141795433del	GRCh37
NC_000002.10:g.141511902_141511903del	NCBI36
NG_051023.1:g.1099607_1099608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389484.8:c.1789+11129_1789+11130del MANE Select	ENSP00000374135.3:n.1789+11129_1789+11130del
ENST00000389484.7:c.1789+11129_1789+11130del	ENSP00000374135.3:n.1789+11129_1789+11130del
ENST00000434794.1:c.206-55581_206-55580del	ENSP00000413239.1:n.206-55581_206-55580del
ENST00000618808.4:c.1447+11129_1447+11130del	ENSP00000478868.1:n.1447+11129_1447+11130del
NM_018557.2:c.1789+11129_1789+11130del	NP_061027.2:n.1789+11129_1789+11130del
XM_011511352.1:c.1900+11129_1900+11130del	XP_011509654.1:n.1900+11129_1900+11130del
XM_017004341.1:c.1399+11129_1399+11130del	XP_016859830.1:n.1399+11129_1399+11130del
XR_001738778.1:n.3523+11129_3523+11130del
NM_018557.3:c.1789+11129_1789+11130del MANE Select	NP_061027.2:n.1789+11129_1789+11130del