Canonical Allele Identifier: CA645372640
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431517
ClinVar RCV Id: RCV000497222
dbSNP Id: rs1135402769

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110660dup , CM000681.2:g.11110660dup GRCh38
NC_000019.9:g.11221336dup , CM000681.1:g.11221336dup GRCh37
NC_000019.8:g.11082336dup NCBI36
NG_009060.1:g.26280dup , LRG_274:g.26280dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1207dup ENSP00000252444.6:p.Glu403GlyfsTer15
ENST00000559340.2:c.949dup ENSP00000453696.2:p.Glu317GlyfsTer15
ENST00000560467.2:c.941-854dup ENSP00000453513.2:n.941-854dup
ENST00000558518.6:c.949dup MANE Select ENSP00000454071.1:p.Glu317GlyfsTer15
ENST00000252444.9:c.1203dup
ENST00000455727.6:c.445dup ENSP00000397829.2:p.Glu149GlyfsTer15
ENST00000535915.5:c.826dup ENSP00000440520.1:p.Glu276GlyfsTer15
ENST00000545707.5:c.568dup ENSP00000437639.1:p.Glu190GlyfsTer15
ENST00000557933.5:c.949dup ENSP00000453557.1:p.Glu317GlyfsTer15
ENST00000558013.5:c.949dup ENSP00000453346.1:p.Glu317GlyfsTer15
ENST00000558518.5:c.949dup ENSP00000454071.1:p.Glu317GlyfsTer15
ENST00000560467.1:c.541-854dup
NM_000527.4:c.949dup , LRG_274t1:c.949dup NP_000518.1:p.Glu317GlyfsTer15
NM_001195798.1:c.949dup NP_001182727.1:p.Glu317GlyfsTer15
NM_001195799.1:c.826dup NP_001182728.1:p.Glu276GlyfsTer15
NM_001195800.1:c.445dup NP_001182729.1:p.Glu149GlyfsTer15
NM_001195803.1:c.568dup NP_001182732.1:p.Glu190GlyfsTer15
XM_011528010.1:c.949dup XP_011526312.1:p.Glu317GlyfsTer15
XM_011528011.1:c.568dup XP_011526313.1:p.Glu190GlyfsTer15
XR_244074.2:n.1099dup
XM_011528010.2:c.949dup XP_011526312.1:p.Glu317GlyfsTer15
XR_001753685.2:n.1066dup
XR_001753686.2:n.1066dup
NM_000527.5:c.949dup MANE Select NP_000518.1:p.Glu317GlyfsTer15
NM_001195798.2:c.949dup NP_001182727.1:p.Glu317GlyfsTer15
NM_001195799.2:c.826dup NP_001182728.1:p.Glu276GlyfsTer15
NM_001195800.2:c.445dup NP_001182729.1:p.Glu149GlyfsTer15
NM_001195803.2:c.568dup NP_001182732.1:p.Glu190GlyfsTer15