Canonical Allele Identifier: CA2580612597
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105170_11111689dup , CM000681.2:g.11105170_11111689dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.572-50_1444+50dup
ENST00000559340.2:c.314-50_1186+50dup
ENST00000560467.2:c.314-50_1066+50dup
ENST00000558518.6:c.314-50_1186+50dup
ENST00000252444.9:c.568-50_1440+50dup
ENST00000455727.6:c.314-2222_682+50dup
ENST00000535915.5:c.191-50_1063+50dup
ENST00000545707.5:c.314-1395_805+50dup
ENST00000557933.5:c.314-50_1186+50dup
ENST00000558013.5:c.314-50_1186+50dup
ENST00000558518.5:c.314-50_1186+50dup
NM_000527.4:c.314-50_1186+50dup , LRG_274t1:c.314-50_1186+50dup
NM_001195798.1:c.314-50_1186+50dup
NM_001195799.1:c.191-50_1063+50dup
NM_001195800.1:c.314-2222_682+50dup
NM_001195803.1:c.314-1395_805+50dup
XM_011528010.1:c.314-50_1186+50dup
XM_011528011.1:c.314-1395_805+50dup
XR_244074.2:n.464-50_1336+50dup
XM_011528010.2:c.314-50_1186+50dup
XR_001753685.2:n.431-50_1303+50dup
XR_001753686.2:n.431-50_1303+50dup
NM_000527.5:c.314-50_1186+50dup
NM_001195798.2:c.314-50_1186+50dup
NM_001195799.2:c.191-50_1063+50dup
NM_001195800.2:c.314-2222_682+50dup
NM_001195803.2:c.314-1395_805+50dup