Canonical Allele Identifier: CA2573320459
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129540dup , CM000681.2:g.11129540dup GRCh38
NC_000019.9:g.11240216dup , CM000681.1:g.11240216dup GRCh37
NC_000019.8:g.11101216dup NCBI36
NG_009060.1:g.45160dup , LRG_274:g.45160dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2675dup ENSP00000252444.6:p.Phe893LeufsTer10
ENST00000559340.2:c.*486dup ENSP00000453696.2:n.*486dup
ENST00000560467.2:c.2297dup ENSP00000453513.2:p.Phe767LeufsTer10
ENST00000558518.6:c.2417dup MANE Select ENSP00000454071.1:p.Phe807LeufsTer10
ENST00000252444.9:c.2671dup
ENST00000455727.6:c.1913dup ENSP00000397829.2:p.Phe639LeufsTer10
ENST00000535915.5:c.2294dup ENSP00000440520.1:p.Phe766LeufsTer10
ENST00000545707.5:c.1883dup ENSP00000437639.1:p.Phe629LeufsTer10
ENST00000557933.5:c.2479dup ENSP00000453557.1:p.Ser827PhefsTer?
ENST00000558013.5:c.2417dup ENSP00000453346.1:p.Phe807LeufsTer10
ENST00000558518.5:c.2417dup ENSP00000454071.1:p.Phe807LeufsTer10
ENST00000560628.1:n.108+1886dup
NM_000527.4:c.2417dup , LRG_274t1:c.2417dup NP_000518.1:p.Phe807LeufsTer10
NM_001195798.1:c.2417dup NP_001182727.1:p.Phe807LeufsTer10
NM_001195799.1:c.2294dup NP_001182728.1:p.Phe766LeufsTer10
NM_001195800.1:c.1913dup NP_001182729.1:p.Phe639LeufsTer10
NM_001195803.1:c.1883dup NP_001182732.1:p.Phe629LeufsTer10
XM_011528010.1:c.2339dup XP_011526312.1:p.Phe781LeufsTer10
XM_011528011.1:c.2036dup XP_011526313.1:p.Phe680LeufsTer10
XR_244074.2:n.2427dup
XM_011528010.2:c.2339dup XP_011526312.1:p.Phe781LeufsTer10
XR_001753685.2:n.2751dup
XR_001753686.2:n.2394dup
NM_000527.5:c.2417dup MANE Select NP_000518.1:p.Phe807LeufsTer10
NM_001195798.2:c.2417dup NP_001182727.1:p.Phe807LeufsTer10
NM_001195799.2:c.2294dup NP_001182728.1:p.Phe766LeufsTer10
NM_001195800.2:c.1913dup NP_001182729.1:p.Phe639LeufsTer10
NM_001195803.2:c.1883dup NP_001182732.1:p.Phe629LeufsTer10