Canonical Allele Identifier: CA2695223202
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105394dup , CM000681.2:g.11105394dup GRCh38
NC_000019.9:g.11216070dup , CM000681.1:g.11216070dup GRCh37
NC_000019.8:g.11077070dup NCBI36
NG_009060.1:g.21014dup , LRG_274:g.21014dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.746dup ENSP00000252444.6:p.Leu250AlafsTer16
ENST00000559340.2:c.488dup ENSP00000453696.2:p.Leu164AlafsTer16
ENST00000560467.2:c.488dup ENSP00000453513.2:p.Leu164AlafsTer16
ENST00000558518.6:c.488dup MANE Select ENSP00000454071.1:p.Leu164AlafsTer16
ENST00000252444.9:c.742dup
ENST00000455727.6:c.314-1998dup ENSP00000397829.2:n.314-1998dup
ENST00000535915.5:c.365dup ENSP00000440520.1:p.Leu123AlafsTer16
ENST00000545707.5:c.314-1171dup ENSP00000437639.1:n.314-1171dup
ENST00000557933.5:c.488dup ENSP00000453557.1:p.Leu164AlafsTer16
ENST00000558013.5:c.488dup ENSP00000453346.1:p.Leu164AlafsTer16
ENST00000558518.5:c.488dup ENSP00000454071.1:p.Leu164AlafsTer16
ENST00000560467.1:c.88dup
NM_000527.4:c.488dup , LRG_274t1:c.488dup NP_000518.1:p.Leu164AlafsTer16
NM_001195798.1:c.488dup NP_001182727.1:p.Leu164AlafsTer16
NM_001195799.1:c.365dup NP_001182728.1:p.Leu123AlafsTer16
NM_001195800.1:c.314-1998dup NP_001182729.1:n.314-1998dup
NM_001195803.1:c.314-1171dup NP_001182732.1:n.314-1171dup
XM_011528010.1:c.488dup XP_011526312.1:p.Leu164AlafsTer16
XM_011528011.1:c.314-1171dup XP_011526313.1:n.314-1171dup
XR_244074.2:n.638dup
XM_011528010.2:c.488dup XP_011526312.1:p.Leu164AlafsTer16
XR_001753685.2:n.605dup
XR_001753686.2:n.605dup
NM_000527.5:c.488dup MANE Select NP_000518.1:p.Leu164AlafsTer16
NM_001195798.2:c.488dup NP_001182727.1:p.Leu164AlafsTer16
NM_001195799.2:c.365dup NP_001182728.1:p.Leu123AlafsTer16
NM_001195800.2:c.314-1998dup NP_001182729.1:n.314-1998dup
NM_001195803.2:c.314-1171dup NP_001182732.1:n.314-1171dup
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