Canonical Allele Identifier: CA10585107
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251426
ClinVar RCV Id: RCV000237651
dbSNP Id: rs879254660
MyVariant Identifiers: chr19:g.11217283del (hg19) chr19:g.11106607del (hg38)
PubMed: PMID:9259195
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106607del , CM000681.2:g.11106607del GRCh38
NC_000019.9:g.11217283del , CM000681.1:g.11217283del GRCh37
NC_000019.8:g.11078283del NCBI36
NG_009060.1:g.22227del , LRG_274:g.22227del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.995del ENSP00000252444.6:p.Gly332GlufsTer19
ENST00000559340.2:c.737del ENSP00000453696.2:p.Gly246GlufsTer19
ENST00000560467.2:c.737del ENSP00000453513.2:p.Gly246GlufsTer19
ENST00000558518.6:c.737del MANE Select ENSP00000454071.1:p.Gly246GlufsTer19
ENST00000252444.9:c.991del
ENST00000455727.6:c.314-785del ENSP00000397829.2:n.314-785del
ENST00000535915.5:c.614del ENSP00000440520.1:p.Gly205GlufsTer19
ENST00000545707.5:c.356del ENSP00000437639.1:p.Gly119GlufsTer19
ENST00000557933.5:c.737del ENSP00000453557.1:p.Gly246GlufsTer19
ENST00000558013.5:c.737del ENSP00000453346.1:p.Gly246GlufsTer19
ENST00000558518.5:c.737del ENSP00000454071.1:p.Gly246GlufsTer19
ENST00000558528.1:n.252del
ENST00000560467.1:c.337del
NM_000527.4:c.737del , LRG_274t1:c.737del NP_000518.1:p.Gly246GlufsTer19
NM_001195798.1:c.737del NP_001182727.1:p.Gly246GlufsTer19
NM_001195799.1:c.614del NP_001182728.1:p.Gly205GlufsTer19
NM_001195800.1:c.314-785del NP_001182729.1:n.314-785del
NM_001195803.1:c.356del NP_001182732.1:p.Gly119GlufsTer19
XM_011528010.1:c.737del XP_011526312.1:p.Gly246GlufsTer19
XM_011528011.1:c.356del XP_011526313.1:p.Gly119GlufsTer19
XR_244074.2:n.887del
XM_011528010.2:c.737del XP_011526312.1:p.Gly246GlufsTer19
XR_001753685.2:n.854del
XR_001753686.2:n.854del
NM_000527.5:c.737del MANE Select NP_000518.1:p.Gly246GlufsTer19
NM_001195798.2:c.737del NP_001182727.1:p.Gly246GlufsTer19
NM_001195799.2:c.614del NP_001182728.1:p.Gly205GlufsTer19
NM_001195800.2:c.314-785del NP_001182729.1:n.314-785del
NM_001195803.2:c.356del NP_001182732.1:p.Gly119GlufsTer19
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