Canonical Allele Identifier: CA645373224
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431510
ClinVar RCV Id: RCV000497104
dbSNP Id: rs1135402767
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105385_11105386delinsTT , CM000681.2:g.11105385_11105386delinsTT GRCh38
NC_000019.9:g.11216061_11216062delinsTT , CM000681.1:g.11216061_11216062delinsTT GRCh37
NC_000019.8:g.11077061_11077062delinsTT NCBI36
NG_009060.1:g.21005_21006delinsTT , LRG_274:g.21005_21006delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.737_738delinsTT ENSP00000252444.6:p.Cys246Phe
ENST00000559340.2:c.479_480delinsTT ENSP00000453696.2:p.Cys160Phe
ENST00000560467.2:c.479_480delinsTT ENSP00000453513.2:p.Cys160Phe
ENST00000558518.6:c.479_480delinsTT MANE Select ENSP00000454071.1:p.Cys160Phe
ENST00000252444.9:c.733_734delinsTT
ENST00000455727.6:c.314-2007_314-2006delinsTT ENSP00000397829.2:n.314-2007_314-2006delinsTT
ENST00000535915.5:c.356_357delinsTT ENSP00000440520.1:p.Cys119Phe
ENST00000545707.5:c.314-1180_314-1179delinsTT ENSP00000437639.1:n.314-1180_314-1179delinsTT
ENST00000557933.5:c.479_480delinsTT ENSP00000453557.1:p.Cys160Phe
ENST00000558013.5:c.479_480delinsTT ENSP00000453346.1:p.Cys160Phe
ENST00000558518.5:c.479_480delinsTT ENSP00000454071.1:p.Cys160Phe
ENST00000560467.1:c.79_80delinsTT
NM_000527.4:c.479_480delinsTT , LRG_274t1:c.479_480delinsTT NP_000518.1:p.Cys160Phe
NM_001195798.1:c.479_480delinsTT NP_001182727.1:p.Cys160Phe
NM_001195799.1:c.356_357delinsTT NP_001182728.1:p.Cys119Phe
NM_001195800.1:c.314-2007_314-2006delinsTT NP_001182729.1:n.314-2007_314-2006delinsTT
NM_001195803.1:c.314-1180_314-1179delinsTT NP_001182732.1:n.314-1180_314-1179delinsTT
XM_011528010.1:c.479_480delinsTT XP_011526312.1:p.Cys160Phe
XM_011528011.1:c.314-1180_314-1179delinsTT XP_011526313.1:n.314-1180_314-1179delinsTT
XR_244074.2:n.629_630delinsTT
XM_011528010.2:c.479_480delinsTT XP_011526312.1:p.Cys160Phe
XR_001753685.2:n.596_597delinsTT
XR_001753686.2:n.596_597delinsTT
NM_000527.5:c.479_480delinsTT MANE Select NP_000518.1:p.Cys160Phe
NM_001195798.2:c.479_480delinsTT NP_001182727.1:p.Cys160Phe
NM_001195799.2:c.356_357delinsTT NP_001182728.1:p.Cys119Phe
NM_001195800.2:c.314-2007_314-2006delinsTT NP_001182729.1:n.314-2007_314-2006delinsTT
NM_001195803.2:c.314-1180_314-1179delinsTT NP_001182732.1:n.314-1180_314-1179delinsTT
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