Canonical Allele Identifier: CA2499225320
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1069255
ClinVar RCV Id: RCV001381066
dbSNP Id: rs2147249259

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113679_11113680dup , CM000681.2:g.11113679_11113680dup GRCh38
NC_000019.9:g.11224355_11224356dup , CM000681.1:g.11224355_11224356dup GRCh37
NC_000019.8:g.11085355_11085356dup NCBI36
NG_009060.1:g.29299_29300dup , LRG_274:g.29299_29300dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1761_1762dup ENSP00000252444.6:p.Asp588GlyfsTer6
ENST00000559340.2:c.1503_1504dup ENSP00000453696.2:p.Asp502GlyfsTer6
ENST00000560467.2:c.1383_1384dup ENSP00000453513.2:p.Asp462GlyfsTer6
ENST00000558518.6:c.1503_1504dup MANE Select ENSP00000454071.1:p.Asp502GlyfsTer6
ENST00000252444.9:c.1757_1758dup
ENST00000455727.6:c.999_1000dup ENSP00000397829.2:p.Asp334GlyfsTer6
ENST00000535915.5:c.1380_1381dup ENSP00000440520.1:p.Asp461GlyfsTer6
ENST00000545707.5:c.1122_1123dup ENSP00000437639.1:p.Asp375GlyfsTer6
ENST00000557933.5:c.1503_1504dup ENSP00000453557.1:p.Asp502GlyfsTer6
ENST00000558013.5:c.1503_1504dup ENSP00000453346.1:p.Asp502GlyfsTer6
ENST00000558518.5:c.1503_1504dup ENSP00000454071.1:p.Asp502GlyfsTer6
ENST00000559340.1:c.224_225dup
NM_000527.4:c.1503_1504dup , LRG_274t1:c.1503_1504dup NP_000518.1:p.Asp502GlyfsTer6
NM_001195798.1:c.1503_1504dup NP_001182727.1:p.Asp502GlyfsTer6
NM_001195799.1:c.1380_1381dup NP_001182728.1:p.Asp461GlyfsTer6
NM_001195800.1:c.999_1000dup NP_001182729.1:p.Asp334GlyfsTer6
NM_001195803.1:c.1122_1123dup NP_001182732.1:p.Asp375GlyfsTer6
XM_011528010.1:c.1503_1504dup XP_011526312.1:p.Asp502GlyfsTer6
XM_011528011.1:c.1122_1123dup XP_011526313.1:p.Asp375GlyfsTer6
XR_244074.2:n.1653_1654dup
XM_011528010.2:c.1503_1504dup XP_011526312.1:p.Asp502GlyfsTer6
XR_001753685.2:n.1620_1621dup
XR_001753686.2:n.1620_1621dup
NM_000527.5:c.1503_1504dup MANE Select NP_000518.1:p.Asp502GlyfsTer6
NM_001195798.2:c.1503_1504dup NP_001182727.1:p.Asp502GlyfsTer6
NM_001195799.2:c.1380_1381dup NP_001182728.1:p.Asp461GlyfsTer6
NM_001195800.2:c.999_1000dup NP_001182729.1:p.Asp334GlyfsTer6
NM_001195803.2:c.1122_1123dup NP_001182732.1:p.Asp375GlyfsTer6