Canonical Allele Identifier: CA1139666272

Gene: LDLR

Linked Data

• ClinVar Variation Id: 977993
• ClinVar RCV Id: RCV001255949 ; RCV001879948 ; RCV003405465
• dbSNP Id: rs2077419354

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113668_11113669del , CM000681.2:g.11113668_11113669del	GRCh38
NC_000019.9:g.11224344_11224345del , CM000681.1:g.11224344_11224345del	GRCh37
NC_000019.8:g.11085344_11085345del	NCBI36
NG_009060.1:g.29288_29289del , LRG_274:g.29288_29289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1750_1751del	ENSP00000252444.6:p.Val584LeufsTer?
ENST00000559340.2:c.1492_1493del	ENSP00000453696.2:p.Val498LeufsTer?
ENST00000560467.2:c.1372_1373del	ENSP00000453513.2:p.Val458LeufsTer?
ENST00000558518.6:c.1492_1493del MANE Select	ENSP00000454071.1:p.Val498LeufsTer?
ENST00000252444.9:c.1746_1747del
ENST00000455727.6:c.988_989del	ENSP00000397829.2:p.Val330LeufsTer?
ENST00000535915.5:c.1369_1370del	ENSP00000440520.1:p.Val457LeufsTer?
ENST00000545707.5:c.1111_1112del	ENSP00000437639.1:p.Val371LeufsTer?
ENST00000557933.5:c.1492_1493del	ENSP00000453557.1:p.Val498LeufsTer?
ENST00000558013.5:c.1492_1493del	ENSP00000453346.1:p.Val498LeufsTer?
ENST00000558518.5:c.1492_1493del	ENSP00000454071.1:p.Val498LeufsTer?
ENST00000559340.1:c.213_214del
NM_000527.4:c.1492_1493del , LRG_274t1:c.1492_1493del	NP_000518.1:p.Val498LeufsTer?
NM_001195798.1:c.1492_1493del	NP_001182727.1:p.Val498LeufsTer?
NM_001195799.1:c.1369_1370del	NP_001182728.1:p.Val457LeufsTer?
NM_001195800.1:c.988_989del	NP_001182729.1:p.Val330LeufsTer?
NM_001195803.1:c.1111_1112del	NP_001182732.1:p.Val371LeufsTer?
XM_011528010.1:c.1492_1493del	XP_011526312.1:p.Val498LeufsTer?
XM_011528011.1:c.1111_1112del	XP_011526313.1:p.Val371LeufsTer?
XR_244074.2:n.1642_1643del
XM_011528010.2:c.1492_1493del	XP_011526312.1:p.Val498LeufsTer?
XR_001753685.2:n.1609_1610del
XR_001753686.2:n.1609_1610del
NM_000527.5:c.1492_1493del MANE Select	NP_000518.1:p.Val498LeufsTer?
NM_001195798.2:c.1492_1493del	NP_001182727.1:p.Val498LeufsTer?
NM_001195799.2:c.1369_1370del	NP_001182728.1:p.Val457LeufsTer?
NM_001195800.2:c.988_989del	NP_001182729.1:p.Val330LeufsTer?
NM_001195803.2:c.1111_1112del	NP_001182732.1:p.Val371LeufsTer?