Canonical Allele Identifier: CA2573156030
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1452737
ClinVar RCV Id: RCV001999960
dbSNP Id: rs1555808143

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123315_11123342dup , CM000681.2:g.11123315_11123342dup GRCh38
NC_000019.9:g.11233991_11234018dup , CM000681.1:g.11233991_11234018dup GRCh37
NC_000019.8:g.11094991_11095018dup NCBI36
NG_009060.1:g.38935_38962dup , LRG_274:g.38935_38962dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2540_2567dup ENSP00000252444.6:p.Gln856HisfsTer21
ENST00000559340.2:c.*351_*378dup ENSP00000453696.2:n.*351_*378dup
ENST00000560467.2:c.2162_2189dup ENSP00000453513.2:p.Gln730HisfsTer21
ENST00000558518.6:c.2282_2309dup MANE Select ENSP00000454071.1:p.Gln770HisfsTer21
ENST00000252444.9:c.2536_2563dup
ENST00000455727.6:c.1778_1805dup ENSP00000397829.2:p.Gln602HisfsTer21
ENST00000535915.5:c.2159_2186dup ENSP00000440520.1:p.Gln729HisfsTer21
ENST00000545707.5:c.1748_1775dup ENSP00000437639.1:p.Gln592HisfsTer21
ENST00000557933.5:c.2282_2309dup ENSP00000453557.1:p.Gln770HisfsTer21
ENST00000558013.5:c.2282_2309dup ENSP00000453346.1:p.Gln770HisfsTer21
ENST00000558518.5:c.2282_2309dup ENSP00000454071.1:p.Gln770HisfsTer21
NM_000527.4:c.2282_2309dup , LRG_274t1:c.2282_2309dup NP_000518.1:p.Gln770HisfsTer21
NM_001195798.1:c.2282_2309dup NP_001182727.1:p.Gln770HisfsTer21
NM_001195799.1:c.2159_2186dup NP_001182728.1:p.Gln729HisfsTer21
NM_001195800.1:c.1778_1805dup NP_001182729.1:p.Gln602HisfsTer21
NM_001195803.1:c.1748_1775dup NP_001182732.1:p.Gln592HisfsTer21
XM_011528010.1:c.2282_2309dup XP_011526312.1:p.Gln770HisfsTer30
XM_011528011.1:c.1901_1928dup XP_011526313.1:p.Gln643HisfsTer21
XR_244074.2:n.2292_2319dup
XM_011528010.2:c.2282_2309dup XP_011526312.1:p.Gln770HisfsTer30
XR_001753685.2:n.2616_2643dup
XR_001753686.2:n.2259_2286dup
NM_000527.5:c.2282_2309dup MANE Select NP_000518.1:p.Gln770HisfsTer21
NM_001195798.2:c.2282_2309dup NP_001182727.1:p.Gln770HisfsTer21
NM_001195799.2:c.2159_2186dup NP_001182728.1:p.Gln729HisfsTer21
NM_001195800.2:c.1778_1805dup NP_001182729.1:p.Gln602HisfsTer21
NM_001195803.2:c.1748_1775dup NP_001182732.1:p.Gln592HisfsTer21