Canonical Allele Identifier: CA2582475494
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123342_11123352del , CM000681.2:g.11123342_11123352del GRCh38
NC_000019.9:g.11234018_11234028del , CM000681.1:g.11234018_11234028del GRCh37
NC_000019.8:g.11095018_11095028del NCBI36
NG_009060.1:g.38962_38972del , LRG_274:g.38962_38972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2567_2569+8del
ENST00000559340.2:c.*378_*380+8del
ENST00000560467.2:c.2189_2191+8del
ENST00000558518.6:c.2309_2311+8del
ENST00000252444.9:c.2563_2565+8del
ENST00000455727.6:c.1805_1807+8del
ENST00000535915.5:c.2186_2188+8del
ENST00000545707.5:c.1775_1777+8del
ENST00000557933.5:c.2309_2311+8del
ENST00000558013.5:c.2309_2311+8del
ENST00000558518.5:c.2309_2311+8del
NM_000527.4:c.2309_2311+8del , LRG_274t1:c.2309_2311+8del
NM_001195798.1:c.2309_2311+8del
NM_001195799.1:c.2186_2188+8del
NM_001195800.1:c.1805_1807+8del
NM_001195803.1:c.1775_1777+8del
XM_011528010.1:c.2309_2311+8del
XM_011528011.1:c.1928_1930+8del
XR_244074.2:n.2319_2321+8del
XM_011528010.2:c.2309_2311+8del
XR_001753685.2:n.2643_2645+8del
XR_001753686.2:n.2286_2288+8del
NM_000527.5:c.2309_2311+8del
NM_001195798.2:c.2309_2311+8del
NM_001195799.2:c.2186_2188+8del
NM_001195800.2:c.1805_1807+8del
NM_001195803.2:c.1775_1777+8del