Canonical Allele Identifier: CA2813590425
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089751dup , CM000681.2:g.11089751dup GRCh38
NC_000019.9:g.11200427dup , CM000681.1:g.11200427dup GRCh37
NC_000019.8:g.11061427dup NCBI36
NG_009060.1:g.5371dup , LRG_274:g.5371dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.67+136dup ENSP00000453696.2:n.67+136dup
ENST00000560467.2:c.67+136dup ENSP00000453513.2:n.67+136dup
ENST00000558518.6:c.67+136dup MANE Select ENSP00000454071.1:n.67+136dup
ENST00000455727.6:c.67+136dup ENSP00000397829.2:n.67+136dup
ENST00000535915.5:c.67+136dup ENSP00000440520.1:n.67+136dup
ENST00000545707.5:c.67+136dup ENSP00000437639.1:n.67+136dup
ENST00000557933.5:c.67+136dup ENSP00000453557.1:n.67+136dup
ENST00000557958.1:n.153+136dup
ENST00000558013.5:c.67+136dup ENSP00000453346.1:n.67+136dup
ENST00000558518.5:c.67+136dup ENSP00000454071.1:n.67+136dup
ENST00000560502.5:n.153+136dup
NM_000527.4:c.67+136dup , LRG_274t1:c.67+136dup NP_000518.1:n.67+136dup
NM_001195798.1:c.67+136dup NP_001182727.1:n.67+136dup
NM_001195799.1:c.67+136dup NP_001182728.1:n.67+136dup
NM_001195800.1:c.67+136dup NP_001182729.1:n.67+136dup
NM_001195803.1:c.67+136dup NP_001182732.1:n.67+136dup
XM_011528010.1:c.67+136dup XP_011526312.1:n.67+136dup
XM_011528011.1:c.67+136dup XP_011526313.1:n.67+136dup
XR_244074.2:n.217+136dup
XM_011528010.2:c.67+136dup XP_011526312.1:n.67+136dup
XR_001753685.2:n.184+136dup
XR_001753686.2:n.184+136dup
NM_000527.5:c.67+136dup MANE Select NP_000518.1:n.67+136dup
NM_001195798.2:c.67+136dup NP_001182727.1:n.67+136dup
NM_001195799.2:c.67+136dup NP_001182728.1:n.67+136dup
NM_001195800.2:c.67+136dup NP_001182729.1:n.67+136dup
NM_001195803.2:c.67+136dup NP_001182732.1:n.67+136dup
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