Canonical Allele Identifier: CA10585262
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251610
ClinVar RCV Id: RCV000237175
dbSNP Id: rs879254764
MyVariant Identifiers: chr19:g.11221429del (hg19) chr19:g.11110753del (hg38)
PubMed: PMID:20809525
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110753del , CM000681.2:g.11110753del GRCh38
NC_000019.9:g.11221429del , CM000681.1:g.11221429del GRCh37
NC_000019.8:g.11082429del NCBI36
NG_009060.1:g.26373del , LRG_274:g.26373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1300del ENSP00000252444.6:p.Ala434ProfsTer22
ENST00000559340.2:c.1042del ENSP00000453696.2:p.Ala348ProfsTer22
ENST00000560467.2:c.941-761del ENSP00000453513.2:n.941-761del
ENST00000558518.6:c.1042del MANE Select ENSP00000454071.1:p.Ala348ProfsTer22
ENST00000252444.9:c.1296del
ENST00000455727.6:c.538del ENSP00000397829.2:p.Ala180ProfsTer22
ENST00000535915.5:c.919del ENSP00000440520.1:p.Ala307ProfsTer22
ENST00000545707.5:c.661del ENSP00000437639.1:p.Ala221ProfsTer22
ENST00000557933.5:c.1042del ENSP00000453557.1:p.Ala348ProfsTer22
ENST00000558013.5:c.1042del ENSP00000453346.1:p.Ala348ProfsTer22
ENST00000558518.5:c.1042del ENSP00000454071.1:p.Ala348ProfsTer22
ENST00000560173.1:n.41del
ENST00000560467.1:c.541-761del
NM_000527.4:c.1042del , LRG_274t1:c.1042del NP_000518.1:p.Ala348ProfsTer22
NM_001195798.1:c.1042del NP_001182727.1:p.Ala348ProfsTer22
NM_001195799.1:c.919del NP_001182728.1:p.Ala307ProfsTer22
NM_001195800.1:c.538del NP_001182729.1:p.Ala180ProfsTer22
NM_001195803.1:c.661del NP_001182732.1:p.Ala221ProfsTer22
XM_011528010.1:c.1042del XP_011526312.1:p.Ala348ProfsTer22
XM_011528011.1:c.661del XP_011526313.1:p.Ala221ProfsTer22
XR_244074.2:n.1192del
XM_011528010.2:c.1042del XP_011526312.1:p.Ala348ProfsTer22
XR_001753685.2:n.1159del
XR_001753686.2:n.1159del
NM_000527.5:c.1042del MANE Select NP_000518.1:p.Ala348ProfsTer22
NM_001195798.2:c.1042del NP_001182727.1:p.Ala348ProfsTer22
NM_001195799.2:c.919del NP_001182728.1:p.Ala307ProfsTer22
NM_001195800.2:c.538del NP_001182729.1:p.Ala180ProfsTer22
NM_001195803.2:c.661del NP_001182732.1:p.Ala221ProfsTer22
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