Canonical Allele Identifier: CA2582476513
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129554_11129555insTTCTCCTCCCTCAGCCTCCCAAGT , CM000681.2:g.11129554_11129555insTTCTCCTCCCTCAGCCTCCCAAGT GRCh38
NC_000019.9:g.11240230_11240231insTTCTCCTCCCTCAGCCTCCCAAGT , CM000681.1:g.11240230_11240231insTTCTCCTCCCTCAGCCTCCCAAGT GRCh37
NC_000019.8:g.11101230_11101231insTTCTCCTCCCTCAGCCTCCCAAGT NCBI36
NG_009060.1:g.45174_45175insTTCTCCTCCCTCAGCCTCCCAAGT , LRG_274:g.45174_45175insTTCTCCTCCCTCAGCCTCCCAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2689_2690insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000252444.6:p.Lys897IlefsTer9
ENST00000559340.2:c.*500_*501insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000453696.2:n.*500_*501insTTCTCCTCCCTCAGCCTCCCAAGT
ENST00000560467.2:c.2311_2312insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000453513.2:p.Lys771IlefsTer9
ENST00000558518.6:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT MANE Select ENSP00000454071.1:p.Lys811IlefsTer9
ENST00000252444.9:c.2685_2686insTTCTCCTCCCTCAGCCTCCCAAGT
ENST00000455727.6:c.1927_1928insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000397829.2:p.Lys643IlefsTer9
ENST00000535915.5:c.2308_2309insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000440520.1:p.Lys770IlefsTer9
ENST00000545707.5:c.1897_1898insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000437639.1:p.Lys633IlefsTer9
ENST00000557933.5:c.2493_2494insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000453557.1:p.Gly831_Arg832insPheSerSerLeuSerLeuProSer
ENST00000558013.5:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000453346.1:p.Lys811IlefsTer9
ENST00000558518.5:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT ENSP00000454071.1:p.Lys811IlefsTer9
ENST00000560628.1:n.108+1900_108+1901insTTCTCCTCCCTCAGCCTCCCAAGT
NM_000527.4:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT , LRG_274t1:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT NP_000518.1:p.Lys811IlefsTer9
NM_001195798.1:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182727.1:p.Lys811IlefsTer9
NM_001195799.1:c.2308_2309insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182728.1:p.Lys770IlefsTer9
NM_001195800.1:c.1927_1928insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182729.1:p.Lys643IlefsTer9
NM_001195803.1:c.1897_1898insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182732.1:p.Lys633IlefsTer9
XM_011528010.1:c.2353_2354insTTCTCCTCCCTCAGCCTCCCAAGT XP_011526312.1:p.Lys785IlefsTer9
XM_011528011.1:c.2050_2051insTTCTCCTCCCTCAGCCTCCCAAGT XP_011526313.1:p.Lys684IlefsTer9
XR_244074.2:n.2441_2442insTTCTCCTCCCTCAGCCTCCCAAGT
XM_011528010.2:c.2353_2354insTTCTCCTCCCTCAGCCTCCCAAGT XP_011526312.1:p.Lys785IlefsTer9
XR_001753685.2:n.2765_2766insTTCTCCTCCCTCAGCCTCCCAAGT
XR_001753686.2:n.2408_2409insTTCTCCTCCCTCAGCCTCCCAAGT
NM_000527.5:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT MANE Select NP_000518.1:p.Lys811IlefsTer9
NM_001195798.2:c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182727.1:p.Lys811IlefsTer9
NM_001195799.2:c.2308_2309insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182728.1:p.Lys770IlefsTer9
NM_001195800.2:c.1927_1928insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182729.1:p.Lys643IlefsTer9
NM_001195803.2:c.1897_1898insTTCTCCTCCCTCAGCCTCCCAAGT NP_001182732.1:p.Lys633IlefsTer9