Canonical Allele Identifier: CA2695228168
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120230dup , CM000681.2:g.11120230dup GRCh38
NC_000019.9:g.11230906dup , CM000681.1:g.11230906dup GRCh37
NC_000019.8:g.11091906dup NCBI36
NG_009060.1:g.35850dup , LRG_274:g.35850dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2242dup ENSP00000252444.6:p.Arg748LysfsTer7
ENST00000559340.2:c.*53dup ENSP00000453696.2:n.*53dup
ENST00000560467.2:c.1864dup ENSP00000453513.2:p.Arg622LysfsTer7
ENST00000558518.6:c.1984dup MANE Select ENSP00000454071.1:p.Arg662LysfsTer7
ENST00000252444.9:c.2238dup
ENST00000455727.6:c.1480dup ENSP00000397829.2:p.Arg494LysfsTer7
ENST00000535915.5:c.1861dup ENSP00000440520.1:p.Arg621LysfsTer7
ENST00000545707.5:c.1603dup ENSP00000437639.1:p.Arg535LysfsTer4
ENST00000557933.5:c.1984dup ENSP00000453557.1:p.Arg662LysfsTer7
ENST00000558013.5:c.1984dup ENSP00000453346.1:p.Arg662LysfsTer7
ENST00000558518.5:c.1984dup ENSP00000454071.1:p.Arg662LysfsTer7
ENST00000559340.1:c.565dup
NM_000527.4:c.1984dup , LRG_274t1:c.1984dup NP_000518.1:p.Arg662LysfsTer7
NM_001195798.1:c.1984dup NP_001182727.1:p.Arg662LysfsTer7
NM_001195799.1:c.1861dup NP_001182728.1:p.Arg621LysfsTer7
NM_001195800.1:c.1480dup NP_001182729.1:p.Arg494LysfsTer7
NM_001195803.1:c.1603dup NP_001182732.1:p.Arg535LysfsTer4
XM_011528010.1:c.1984dup XP_011526312.1:p.Arg662LysfsTer7
XM_011528011.1:c.1603dup XP_011526313.1:p.Arg535LysfsTer7
XR_244074.2:n.1994dup
XM_011528010.2:c.1984dup XP_011526312.1:p.Arg662LysfsTer7
XR_001753685.2:n.2101dup
XR_001753686.2:n.1961dup
NM_000527.5:c.1984dup MANE Select NP_000518.1:p.Arg662LysfsTer7
NM_001195798.2:c.1984dup NP_001182727.1:p.Arg662LysfsTer7
NM_001195799.2:c.1861dup NP_001182728.1:p.Arg621LysfsTer7
NM_001195800.2:c.1480dup NP_001182729.1:p.Arg494LysfsTer7
NM_001195803.2:c.1603dup NP_001182732.1:p.Arg535LysfsTer4