Canonical Allele Identifier: CA2695223178
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100285_11100286dup , CM000681.2:g.11100285_11100286dup GRCh38
NC_000019.9:g.11210961_11210962dup , CM000681.1:g.11210961_11210962dup GRCh37
NC_000019.8:g.11071961_11071962dup NCBI36
NG_009060.1:g.15905_15906dup , LRG_274:g.15905_15906dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.388_389dup ENSP00000252444.6:p.Trp130CysfsTer?
ENST00000559340.2:c.130_131dup ENSP00000453696.2:p.Trp44CysfsTer?
ENST00000560467.2:c.130_131dup ENSP00000453513.2:p.Trp44CysfsTer?
ENST00000558518.6:c.130_131dup MANE Select ENSP00000454071.1:p.Trp44CysfsTer?
ENST00000252444.9:c.384_385dup
ENST00000455727.6:c.130_131dup ENSP00000397829.2:p.Trp44CysfsTer?
ENST00000535915.5:c.130_131dup ENSP00000440520.1:p.Trp44CysfsTer?
ENST00000545707.5:c.130_131dup ENSP00000437639.1:p.Trp44CysfsTer?
ENST00000557933.5:c.130_131dup ENSP00000453557.1:p.Trp44CysfsTer?
ENST00000557958.1:n.216_217dup
ENST00000558013.5:c.130_131dup ENSP00000453346.1:p.Trp44CysfsTer?
ENST00000558518.5:c.130_131dup ENSP00000454071.1:p.Trp44CysfsTer?
ENST00000560502.5:n.216_217dup
NM_000527.4:c.130_131dup , LRG_274t1:c.130_131dup NP_000518.1:p.Trp44CysfsTer?
NM_001195798.1:c.130_131dup NP_001182727.1:p.Trp44CysfsTer?
NM_001195799.1:c.130_131dup NP_001182728.1:p.Trp44CysfsTer?
NM_001195800.1:c.130_131dup NP_001182729.1:p.Trp44CysfsTer?
NM_001195803.1:c.130_131dup NP_001182732.1:p.Trp44CysfsTer?
XM_011528010.1:c.130_131dup XP_011526312.1:p.Trp44CysfsTer?
XM_011528011.1:c.130_131dup XP_011526313.1:p.Trp44CysfsTer?
XR_244074.2:n.280_281dup
XM_011528010.2:c.130_131dup XP_011526312.1:p.Trp44CysfsTer?
XR_001753685.2:n.247_248dup
XR_001753686.2:n.247_248dup
NM_000527.5:c.130_131dup MANE Select NP_000518.1:p.Trp44CysfsTer?
NM_001195798.2:c.130_131dup NP_001182727.1:p.Trp44CysfsTer?
NM_001195799.2:c.130_131dup NP_001182728.1:p.Trp44CysfsTer?
NM_001195800.2:c.130_131dup NP_001182729.1:p.Trp44CysfsTer?
NM_001195803.2:c.130_131dup NP_001182732.1:p.Trp44CysfsTer?