Canonical Allele Identifier: CA2580096410
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1730412
ClinVar RCV Id: RCV002326588

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105240_11105255dup , CM000681.2:g.11105240_11105255dup GRCh38
NC_000019.9:g.11215916_11215931dup , CM000681.1:g.11215916_11215931dup GRCh37
NC_000019.8:g.11076916_11076931dup NCBI36
NG_009060.1:g.20860_20875dup , LRG_274:g.20860_20875dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.592_607dup ENSP00000252444.6:p.His203ArgfsTer18
ENST00000559340.2:c.334_349dup ENSP00000453696.2:p.His117ArgfsTer18
ENST00000560467.2:c.334_349dup ENSP00000453513.2:p.His117ArgfsTer18
ENST00000558518.6:c.334_349dup MANE Select ENSP00000454071.1:p.His117ArgfsTer18
ENST00000252444.9:c.588_603dup
ENST00000455727.6:c.314-2152_314-2137dup ENSP00000397829.2:n.314-2152_314-2137dup
ENST00000535915.5:c.211_226dup ENSP00000440520.1:p.His76ArgfsTer18
ENST00000545707.5:c.314-1325_314-1310dup ENSP00000437639.1:n.314-1325_314-1310dup
ENST00000557933.5:c.334_349dup ENSP00000453557.1:p.His117ArgfsTer18
ENST00000558013.5:c.334_349dup ENSP00000453346.1:p.His117ArgfsTer18
ENST00000558518.5:c.334_349dup ENSP00000454071.1:p.His117ArgfsTer18
NM_000527.4:c.334_349dup , LRG_274t1:c.334_349dup NP_000518.1:p.His117ArgfsTer18
NM_001195798.1:c.334_349dup NP_001182727.1:p.His117ArgfsTer18
NM_001195799.1:c.211_226dup NP_001182728.1:p.His76ArgfsTer18
NM_001195800.1:c.314-2152_314-2137dup NP_001182729.1:n.314-2152_314-2137dup
NM_001195803.1:c.314-1325_314-1310dup NP_001182732.1:n.314-1325_314-1310dup
XM_011528010.1:c.334_349dup XP_011526312.1:p.His117ArgfsTer18
XM_011528011.1:c.314-1325_314-1310dup XP_011526313.1:n.314-1325_314-1310dup
XR_244074.2:n.484_499dup
XM_011528010.2:c.334_349dup XP_011526312.1:p.His117ArgfsTer18
XR_001753685.2:n.451_466dup
XR_001753686.2:n.451_466dup
NM_000527.5:c.334_349dup MANE Select NP_000518.1:p.His117ArgfsTer18
NM_001195798.2:c.334_349dup NP_001182727.1:p.His117ArgfsTer18
NM_001195799.2:c.211_226dup NP_001182728.1:p.His76ArgfsTer18
NM_001195800.2:c.314-2152_314-2137dup NP_001182729.1:n.314-2152_314-2137dup
NM_001195803.2:c.314-1325_314-1310dup NP_001182732.1:n.314-1325_314-1310dup