Canonical Allele Identifier: CA10585690
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252123
ClinVar RCV Id: RCV000237734
dbSNP Id: rs879255082
gnomAD v4: 19-11120188-TC-T
COSMIC: COSM1390297
MyVariant Identifiers: chr19:g.11230868del (hg19) chr19:g.11230865del (hg19) chr19:g.11120192del (hg38)
PubMed: PMID:11857755
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120192del , CM000681.2:g.11120192del GRCh38
NC_000019.9:g.11230868del , CM000681.1:g.11230868del GRCh37
NC_000019.8:g.11091868del NCBI36
NG_009060.1:g.35812del , LRG_274:g.35812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2204del ENSP00000252444.6:p.Pro735GlnfsTer16
ENST00000559340.2:c.*15del ENSP00000453696.2:n.*15del
ENST00000560467.2:c.1826del ENSP00000453513.2:p.Pro609GlnfsTer16
ENST00000558518.6:c.1946del MANE Select ENSP00000454071.1:p.Pro649GlnfsTer16
ENST00000252444.9:c.2200del
ENST00000455727.6:c.1442del ENSP00000397829.2:p.Pro481GlnfsTer16
ENST00000535915.5:c.1823del ENSP00000440520.1:p.Pro608GlnfsTer16
ENST00000545707.5:c.1565del ENSP00000437639.1:p.Pro522GlnfsTer30
ENST00000557933.5:c.1946del ENSP00000453557.1:p.Pro649GlnfsTer16
ENST00000558013.5:c.1946del ENSP00000453346.1:p.Pro649GlnfsTer16
ENST00000558518.5:c.1946del ENSP00000454071.1:p.Pro649GlnfsTer16
ENST00000559340.1:c.527del
NM_000527.4:c.1946del , LRG_274t1:c.1946del NP_000518.1:p.Pro649GlnfsTer16
NM_001195798.1:c.1946del NP_001182727.1:p.Pro649GlnfsTer16
NM_001195799.1:c.1823del NP_001182728.1:p.Pro608GlnfsTer16
NM_001195800.1:c.1442del NP_001182729.1:p.Pro481GlnfsTer16
NM_001195803.1:c.1565del NP_001182732.1:p.Pro522GlnfsTer30
XM_011528010.1:c.1946del XP_011526312.1:p.Pro649GlnfsTer16
XM_011528011.1:c.1565del XP_011526313.1:p.Pro522GlnfsTer16
XR_244074.2:n.1956del
XM_011528010.2:c.1946del XP_011526312.1:p.Pro649GlnfsTer16
XR_001753685.2:n.2063del
XR_001753686.2:n.1923del
NM_000527.5:c.1946del MANE Select NP_000518.1:p.Pro649GlnfsTer16
NM_001195798.2:c.1946del NP_001182727.1:p.Pro649GlnfsTer16
NM_001195799.2:c.1823del NP_001182728.1:p.Pro608GlnfsTer16
NM_001195800.2:c.1442del NP_001182729.1:p.Pro481GlnfsTer16
NM_001195803.2:c.1565del NP_001182732.1:p.Pro522GlnfsTer30
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