Canonical Allele Identifier: CA56723529

Gene: LRP1B

Linked Data

• dbSNP Id: rs919295682
• gnomAD v3: 2-140963557-TAAAG-T
• gnomAD v4: 2-140963557-TAAAG-T
• MyVariant Identifiers: chr2:g.141721127_141721130del (hg19) ; chr2:g.140963558_140963561del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.140963559_140963562del , CM000664.2:g.140963559_140963562del	GRCh38
NC_000002.11:g.141721128_141721131del , CM000664.1:g.141721128_141721131del	GRCh37
NC_000002.10:g.141437598_141437601del	NCBI36
NG_051023.1:g.1173903_1173906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389484.8:c.2888-11621_2888-11618del MANE Select	ENSP00000374135.3:n.2888-11621_2888-11618del
ENST00000389484.7:c.2888-11621_2888-11618del	ENSP00000374135.3:n.2888-11621_2888-11618del
ENST00000434794.1:c.323-11621_323-11618del	ENSP00000413239.1:n.323-11621_323-11618del
ENST00000618808.4:c.2546-11621_2546-11618del	ENSP00000478868.1:n.2546-11621_2546-11618del
NM_018557.2:c.2888-11621_2888-11618del	NP_061027.2:n.2888-11621_2888-11618del
XM_011511352.1:c.2999-11621_2999-11618del	XP_011509654.1:n.2999-11621_2999-11618del
XM_017004341.1:c.2498-11621_2498-11618del	XP_016859830.1:n.2498-11621_2498-11618del
XR_001738778.1:n.4622-11621_4622-11618del
NM_018557.3:c.2888-11621_2888-11618del MANE Select	NP_061027.2:n.2888-11621_2888-11618del