Canonical Allele Identifier: CA2582476512
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129552_11129553insCAACTCCATTTCCCGGGTTCAAGT , CM000681.2:g.11129552_11129553insCAACTCCATTTCCCGGGTTCAAGT GRCh38
NC_000019.9:g.11240228_11240229insCAACTCCATTTCCCGGGTTCAAGT , CM000681.1:g.11240228_11240229insCAACTCCATTTCCCGGGTTCAAGT GRCh37
NC_000019.8:g.11101228_11101229insCAACTCCATTTCCCGGGTTCAAGT NCBI36
NG_009060.1:g.45172_45173insCAACTCCATTTCCCGGGTTCAAGT , LRG_274:g.45172_45173insCAACTCCATTTCCCGGGTTCAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2687_2688insCAACTCCATTTCCCGGGTTCAAGT ENSP00000252444.6:p.Trp896delinsCysAsnSerIleSerArgValGlnVal
ENST00000559340.2:c.*498_*499insCAACTCCATTTCCCGGGTTCAAGT ENSP00000453696.2:n.*498_*499insCAACTCCATTTCCCGGGTTCAAGT
ENST00000560467.2:c.2309_2310insCAACTCCATTTCCCGGGTTCAAGT ENSP00000453513.2:p.Trp770delinsCysAsnSerIleSerArgValGlnVal
ENST00000558518.6:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT MANE Select ENSP00000454071.1:p.Trp810delinsCysAsnSerIleSerArgValGlnVal
ENST00000252444.9:c.2683_2684insCAACTCCATTTCCCGGGTTCAAGT
ENST00000455727.6:c.1925_1926insCAACTCCATTTCCCGGGTTCAAGT ENSP00000397829.2:p.Trp642delinsCysAsnSerIleSerArgValGlnVal
ENST00000535915.5:c.2306_2307insCAACTCCATTTCCCGGGTTCAAGT ENSP00000440520.1:p.Trp769delinsCysAsnSerIleSerArgValGlnVal
ENST00000545707.5:c.1895_1896insCAACTCCATTTCCCGGGTTCAAGT ENSP00000437639.1:p.Trp632delinsCysAsnSerIleSerArgValGlnVal
ENST00000557933.5:c.2491_2492insCAACTCCATTTCCCGGGTTCAAGT ENSP00000453557.1:p.Gly831AlafsTer9
ENST00000558013.5:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT ENSP00000453346.1:p.Trp810delinsCysAsnSerIleSerArgValGlnVal
ENST00000558518.5:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT ENSP00000454071.1:p.Trp810delinsCysAsnSerIleSerArgValGlnVal
ENST00000560628.1:n.108+1898_108+1899insCAACTCCATTTCCCGGGTTCAAGT
NM_000527.4:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT , LRG_274t1:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT NP_000518.1:p.Trp810delinsCysAsnSerIleSerArgValGlnVal
NM_001195798.1:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT NP_001182727.1:p.Trp810delinsCysAsnSerIleSerArgValGlnVal
NM_001195799.1:c.2306_2307insCAACTCCATTTCCCGGGTTCAAGT NP_001182728.1:p.Trp769delinsCysAsnSerIleSerArgValGlnVal
NM_001195800.1:c.1925_1926insCAACTCCATTTCCCGGGTTCAAGT NP_001182729.1:p.Trp642delinsCysAsnSerIleSerArgValGlnVal
NM_001195803.1:c.1895_1896insCAACTCCATTTCCCGGGTTCAAGT NP_001182732.1:p.Trp632delinsCysAsnSerIleSerArgValGlnVal
XM_011528010.1:c.2351_2352insCAACTCCATTTCCCGGGTTCAAGT XP_011526312.1:p.Trp784delinsCysAsnSerIleSerArgValGlnVal
XM_011528011.1:c.2048_2049insCAACTCCATTTCCCGGGTTCAAGT XP_011526313.1:p.Trp683delinsCysAsnSerIleSerArgValGlnVal
XR_244074.2:n.2439_2440insCAACTCCATTTCCCGGGTTCAAGT
XM_011528010.2:c.2351_2352insCAACTCCATTTCCCGGGTTCAAGT XP_011526312.1:p.Trp784delinsCysAsnSerIleSerArgValGlnVal
XR_001753685.2:n.2763_2764insCAACTCCATTTCCCGGGTTCAAGT
XR_001753686.2:n.2406_2407insCAACTCCATTTCCCGGGTTCAAGT
NM_000527.5:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT MANE Select NP_000518.1:p.Trp810delinsCysAsnSerIleSerArgValGlnVal
NM_001195798.2:c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT NP_001182727.1:p.Trp810delinsCysAsnSerIleSerArgValGlnVal
NM_001195799.2:c.2306_2307insCAACTCCATTTCCCGGGTTCAAGT NP_001182728.1:p.Trp769delinsCysAsnSerIleSerArgValGlnVal
NM_001195800.2:c.1925_1926insCAACTCCATTTCCCGGGTTCAAGT NP_001182729.1:p.Trp642delinsCysAsnSerIleSerArgValGlnVal
NM_001195803.2:c.1895_1896insCAACTCCATTTCCCGGGTTCAAGT NP_001182732.1:p.Trp632delinsCysAsnSerIleSerArgValGlnVal