Canonical Allele Identifier: CA2497030056
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111578dup , CM000681.2:g.11111578dup GRCh38
NC_000019.9:g.11222254dup , CM000681.1:g.11222254dup GRCh37
NC_000019.8:g.11083254dup NCBI36
NG_009060.1:g.27198dup , LRG_274:g.27198dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1383dup ENSP00000252444.6:p.Lys462GlnfsTer5
ENST00000559340.2:c.1125dup ENSP00000453696.2:p.Lys376GlnfsTer5
ENST00000560467.2:c.1005dup ENSP00000453513.2:p.Lys336GlnfsTer5
ENST00000558518.6:c.1125dup MANE Select ENSP00000454071.1:p.Lys376GlnfsTer5
ENST00000252444.9:c.1379dup
ENST00000455727.6:c.621dup ENSP00000397829.2:p.Lys208GlnfsTer5
ENST00000535915.5:c.1002dup ENSP00000440520.1:p.Lys335GlnfsTer5
ENST00000545707.5:c.744dup ENSP00000437639.1:p.Lys249GlnfsTer5
ENST00000557933.5:c.1125dup ENSP00000453557.1:p.Lys376GlnfsTer5
ENST00000558013.5:c.1125dup ENSP00000453346.1:p.Lys376GlnfsTer5
ENST00000558518.5:c.1125dup ENSP00000454071.1:p.Lys376GlnfsTer5
ENST00000560173.1:n.124dup
ENST00000560467.1:c.605dup
NM_000527.4:c.1125dup , LRG_274t1:c.1125dup NP_000518.1:p.Lys376GlnfsTer5
NM_001195798.1:c.1125dup NP_001182727.1:p.Lys376GlnfsTer5
NM_001195799.1:c.1002dup NP_001182728.1:p.Lys335GlnfsTer5
NM_001195800.1:c.621dup NP_001182729.1:p.Lys208GlnfsTer5
NM_001195803.1:c.744dup NP_001182732.1:p.Lys249GlnfsTer5
XM_011528010.1:c.1125dup XP_011526312.1:p.Lys376GlnfsTer5
XM_011528011.1:c.744dup XP_011526313.1:p.Lys249GlnfsTer5
XR_244074.2:n.1275dup
XM_011528010.2:c.1125dup XP_011526312.1:p.Lys376GlnfsTer5
XR_001753685.2:n.1242dup
XR_001753686.2:n.1242dup
NM_000527.5:c.1125dup MANE Select NP_000518.1:p.Lys376GlnfsTer5
NM_001195798.2:c.1125dup NP_001182727.1:p.Lys376GlnfsTer5
NM_001195799.2:c.1002dup NP_001182728.1:p.Lys335GlnfsTer5
NM_001195800.2:c.621dup NP_001182729.1:p.Lys208GlnfsTer5
NM_001195803.2:c.744dup NP_001182732.1:p.Lys249GlnfsTer5