Canonical Allele Identifier: CA2582475912
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127588_11127592del , CM000681.2:g.11127588_11127592del GRCh38
NC_000019.9:g.11238264_11238268del , CM000681.1:g.11238264_11238268del GRCh37
NC_000019.8:g.11099264_11099268del NCBI36
NG_009060.1:g.43208_43212del , LRG_274:g.43208_43212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-420_2570-416del ENSP00000252444.6:n.2570-420_2570-416del
ENST00000559340.2:c.*381-420_*381-416del ENSP00000453696.2:n.*381-420_*381-416del
ENST00000560467.2:c.2192-420_2192-416del ENSP00000453513.2:n.2192-420_2192-416del
ENST00000558518.6:c.2312-420_2312-416del MANE Select ENSP00000454071.1:n.2312-420_2312-416del
ENST00000252444.9:c.2566-420_2566-416del
ENST00000455727.6:c.1808-420_1808-416del ENSP00000397829.2:n.1808-420_1808-416del
ENST00000535915.5:c.2189-420_2189-416del ENSP00000440520.1:n.2189-420_2189-416del
ENST00000545707.5:c.1778-420_1778-416del ENSP00000437639.1:n.1778-420_1778-416del
ENST00000557933.5:c.2312-420_2312-416del ENSP00000453557.1:n.2312-420_2312-416del
ENST00000558013.5:c.2312-420_2312-416del ENSP00000453346.1:n.2312-420_2312-416del
ENST00000558518.5:c.2312-420_2312-416del ENSP00000454071.1:n.2312-420_2312-416del
ENST00000560628.1:n.42_46del
NM_000527.4:c.2312-420_2312-416del , LRG_274t1:c.2312-420_2312-416del NP_000518.1:n.2312-420_2312-416del
NM_001195798.1:c.2312-420_2312-416del NP_001182727.1:n.2312-420_2312-416del
NM_001195799.1:c.2189-420_2189-416del NP_001182728.1:n.2189-420_2189-416del
NM_001195800.1:c.1808-420_1808-416del NP_001182729.1:n.1808-420_1808-416del
NM_001195803.1:c.1778-420_1778-416del NP_001182732.1:n.1778-420_1778-416del
XM_011528010.1:c.2312-1925_2312-1921del XP_011526312.1:n.2312-1925_2312-1921del
XM_011528011.1:c.1931-420_1931-416del XP_011526313.1:n.1931-420_1931-416del
XR_244074.2:n.2322-420_2322-416del
XM_011528010.2:c.2312-1925_2312-1921del XP_011526312.1:n.2312-1925_2312-1921del
XR_001753685.2:n.2646-420_2646-416del
XR_001753686.2:n.2289-420_2289-416del
NM_000527.5:c.2312-420_2312-416del MANE Select NP_000518.1:n.2312-420_2312-416del
NM_001195798.2:c.2312-420_2312-416del NP_001182727.1:n.2312-420_2312-416del
NM_001195799.2:c.2189-420_2189-416del NP_001182728.1:n.2189-420_2189-416del
NM_001195800.2:c.1808-420_1808-416del NP_001182729.1:n.1808-420_1808-416del
NM_001195803.2:c.1778-420_1778-416del NP_001182732.1:n.1778-420_1778-416del