Canonical Allele Identifier: CA2830773967
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128072dup , CM000681.2:g.11128072dup GRCh38
NC_000019.9:g.11238748dup , CM000681.1:g.11238748dup GRCh37
NC_000019.8:g.11099748dup NCBI36
NG_009060.1:g.43692dup , LRG_274:g.43692dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2634dup ENSP00000252444.6:p.Val879CysfsTer24
ENST00000559340.2:c.*445dup ENSP00000453696.2:n.*445dup
ENST00000560467.2:c.2256dup ENSP00000453513.2:p.Val753CysfsTer24
ENST00000558518.6:c.2376dup MANE Select ENSP00000454071.1:p.Val793CysfsTer24
ENST00000252444.9:c.2630dup
ENST00000455727.6:c.1872dup ENSP00000397829.2:p.Val625CysfsTer24
ENST00000535915.5:c.2253dup ENSP00000440520.1:p.Val752CysfsTer24
ENST00000545707.5:c.1842dup ENSP00000437639.1:p.Val615CysfsTer24
ENST00000557933.5:c.2376dup ENSP00000453557.1:p.Val793CysfsTer18
ENST00000558013.5:c.2376dup ENSP00000453346.1:p.Val793CysfsTer24
ENST00000558518.5:c.2376dup ENSP00000454071.1:p.Val793CysfsTer24
ENST00000560628.1:n.108+418dup
NM_000527.4:c.2376dup , LRG_274t1:c.2376dup NP_000518.1:p.Val793CysfsTer24
NM_001195798.1:c.2376dup NP_001182727.1:p.Val793CysfsTer24
NM_001195799.1:c.2253dup NP_001182728.1:p.Val752CysfsTer24
NM_001195800.1:c.1872dup NP_001182729.1:p.Val625CysfsTer24
NM_001195803.1:c.1842dup NP_001182732.1:p.Val615CysfsTer24
XM_011528010.1:c.2312-1441dup XP_011526312.1:n.2312-1441dup
XM_011528011.1:c.1995dup XP_011526313.1:p.Val666CysfsTer24
XR_244074.2:n.2386dup
XM_011528010.2:c.2312-1441dup XP_011526312.1:n.2312-1441dup
XR_001753685.2:n.2710dup
XR_001753686.2:n.2353dup
NM_000527.5:c.2376dup MANE Select NP_000518.1:p.Val793CysfsTer24
NM_001195798.2:c.2376dup NP_001182727.1:p.Val793CysfsTer24
NM_001195799.2:c.2253dup NP_001182728.1:p.Val752CysfsTer24
NM_001195800.2:c.1872dup NP_001182729.1:p.Val625CysfsTer24
NM_001195803.2:c.1842dup NP_001182732.1:p.Val615CysfsTer24