Canonical Allele Identifier: CA2695238653
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106603dup , CM000681.2:g.11106603dup GRCh38
NC_000019.9:g.11217279dup , CM000681.1:g.11217279dup GRCh37
NC_000019.8:g.11078279dup NCBI36
NG_009060.1:g.22223dup , LRG_274:g.22223dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.991dup ENSP00000252444.6:p.Asp331GlyfsTer12
ENST00000559340.2:c.733dup ENSP00000453696.2:p.Asp245GlyfsTer12
ENST00000560467.2:c.733dup ENSP00000453513.2:p.Asp245GlyfsTer12
ENST00000558518.6:c.733dup MANE Select ENSP00000454071.1:p.Asp245GlyfsTer12
ENST00000252444.9:c.987dup
ENST00000455727.6:c.314-789dup ENSP00000397829.2:n.314-789dup
ENST00000535915.5:c.610dup ENSP00000440520.1:p.Asp204GlyfsTer12
ENST00000545707.5:c.352dup ENSP00000437639.1:p.Asp118GlyfsTer12
ENST00000557933.5:c.733dup ENSP00000453557.1:p.Asp245GlyfsTer12
ENST00000558013.5:c.733dup ENSP00000453346.1:p.Asp245GlyfsTer12
ENST00000558518.5:c.733dup ENSP00000454071.1:p.Asp245GlyfsTer12
ENST00000558528.1:n.248dup
ENST00000560467.1:c.333dup
NM_000527.4:c.733dup , LRG_274t1:c.733dup NP_000518.1:p.Asp245GlyfsTer12
NM_001195798.1:c.733dup NP_001182727.1:p.Asp245GlyfsTer12
NM_001195799.1:c.610dup NP_001182728.1:p.Asp204GlyfsTer12
NM_001195800.1:c.314-789dup NP_001182729.1:n.314-789dup
NM_001195803.1:c.352dup NP_001182732.1:p.Asp118GlyfsTer12
XM_011528010.1:c.733dup XP_011526312.1:p.Asp245GlyfsTer12
XM_011528011.1:c.352dup XP_011526313.1:p.Asp118GlyfsTer12
XR_244074.2:n.883dup
XM_011528010.2:c.733dup XP_011526312.1:p.Asp245GlyfsTer12
XR_001753685.2:n.850dup
XR_001753686.2:n.850dup
NM_000527.5:c.733dup MANE Select NP_000518.1:p.Asp245GlyfsTer12
NM_001195798.2:c.733dup NP_001182727.1:p.Asp245GlyfsTer12
NM_001195799.2:c.610dup NP_001182728.1:p.Asp204GlyfsTer12
NM_001195800.2:c.314-789dup NP_001182729.1:n.314-789dup
NM_001195803.2:c.352dup NP_001182732.1:p.Asp118GlyfsTer12
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