Canonical Allele Identifier: CA2840306361
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111420dup , CM000681.2:g.11111420dup GRCh38
NC_000019.9:g.11222096dup , CM000681.1:g.11222096dup GRCh37
NC_000019.8:g.11083096dup NCBI36
NG_009060.1:g.27040dup , LRG_274:g.27040dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1319-94dup ENSP00000252444.6:n.1319-94dup
ENST00000559340.2:c.1061-94dup ENSP00000453696.2:n.1061-94dup
ENST00000560467.2:c.941-94dup ENSP00000453513.2:n.941-94dup
ENST00000558518.6:c.1061-94dup MANE Select ENSP00000454071.1:n.1061-94dup
ENST00000252444.9:c.1315-94dup
ENST00000455727.6:c.557-94dup ENSP00000397829.2:n.557-94dup
ENST00000535915.5:c.938-94dup ENSP00000440520.1:n.938-94dup
ENST00000545707.5:c.680-94dup ENSP00000437639.1:n.680-94dup
ENST00000557933.5:c.1061-94dup ENSP00000453557.1:n.1061-94dup
ENST00000558013.5:c.1061-94dup ENSP00000453346.1:n.1061-94dup
ENST00000558518.5:c.1061-94dup ENSP00000454071.1:n.1061-94dup
ENST00000560173.1:n.60-94dup
ENST00000560467.1:c.541-94dup
NM_000527.4:c.1061-94dup , LRG_274t1:c.1061-94dup NP_000518.1:n.1061-94dup
NM_001195798.1:c.1061-94dup NP_001182727.1:n.1061-94dup
NM_001195799.1:c.938-94dup NP_001182728.1:n.938-94dup
NM_001195800.1:c.557-94dup NP_001182729.1:n.557-94dup
NM_001195803.1:c.680-94dup NP_001182732.1:n.680-94dup
XM_011528010.1:c.1061-94dup XP_011526312.1:n.1061-94dup
XM_011528011.1:c.680-94dup XP_011526313.1:n.680-94dup
XR_244074.2:n.1211-94dup
XM_011528010.2:c.1061-94dup XP_011526312.1:n.1061-94dup
XR_001753685.2:n.1178-94dup
XR_001753686.2:n.1178-94dup
NM_000527.5:c.1061-94dup MANE Select NP_000518.1:n.1061-94dup
NM_001195798.2:c.1061-94dup NP_001182727.1:n.1061-94dup
NM_001195799.2:c.938-94dup NP_001182728.1:n.938-94dup
NM_001195800.2:c.557-94dup NP_001182729.1:n.557-94dup
NM_001195803.2:c.680-94dup NP_001182732.1:n.680-94dup