Canonical Allele Identifier: CA757909569

Gene: LRP1B

Linked Data

• dbSNP Id: rs34603242
• gnomAD v3: 2-141038139-TAA-T
• gnomAD v4: 2-141038139-TAA-T
• MyVariant Identifiers: chr2:g.141795709_141795710del (hg19) ; chr2:g.141038140_141038141del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.141038148_141038149del , CM000664.2:g.141038148_141038149del	GRCh38
NC_000002.11:g.141795717_141795718del , CM000664.1:g.141795717_141795718del	GRCh37
NC_000002.10:g.141512187_141512188del	NCBI36
NG_051023.1:g.1099323_1099324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389484.8:c.1789+10845_1789+10846del MANE Select	ENSP00000374135.3:n.1789+10845_1789+10846del
ENST00000389484.7:c.1789+10845_1789+10846del	ENSP00000374135.3:n.1789+10845_1789+10846del
ENST00000434794.1:c.206-55865_206-55864del	ENSP00000413239.1:n.206-55865_206-55864del
ENST00000618808.4:c.1447+10845_1447+10846del	ENSP00000478868.1:n.1447+10845_1447+10846del
NM_018557.2:c.1789+10845_1789+10846del	NP_061027.2:n.1789+10845_1789+10846del
XM_011511352.1:c.1900+10845_1900+10846del	XP_011509654.1:n.1900+10845_1900+10846del
XM_017004341.1:c.1399+10845_1399+10846del	XP_016859830.1:n.1399+10845_1399+10846del
XR_001738778.1:n.3523+10845_3523+10846del
NM_018557.3:c.1789+10845_1789+10846del MANE Select	NP_061027.2:n.1789+10845_1789+10846del