Canonical Allele Identifier: CA2813591285
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127944_11127946del , CM000681.2:g.11127944_11127946del GRCh38
NC_000019.9:g.11238620_11238622del , CM000681.1:g.11238620_11238622del GRCh37
NC_000019.8:g.11099620_11099622del NCBI36
NG_009060.1:g.43564_43566del , LRG_274:g.43564_43566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-64_2570-62del ENSP00000252444.6:n.2570-64_2570-62del
ENST00000559340.2:c.*381-64_*381-62del ENSP00000453696.2:n.*381-64_*381-62del
ENST00000560467.2:c.2192-64_2192-62del ENSP00000453513.2:n.2192-64_2192-62del
ENST00000558518.6:c.2312-64_2312-62del MANE Select ENSP00000454071.1:n.2312-64_2312-62del
ENST00000252444.9:c.2566-64_2566-62del
ENST00000455727.6:c.1808-64_1808-62del ENSP00000397829.2:n.1808-64_1808-62del
ENST00000535915.5:c.2189-64_2189-62del ENSP00000440520.1:n.2189-64_2189-62del
ENST00000545707.5:c.1778-64_1778-62del ENSP00000437639.1:n.1778-64_1778-62del
ENST00000557933.5:c.2312-64_2312-62del ENSP00000453557.1:n.2312-64_2312-62del
ENST00000558013.5:c.2312-64_2312-62del ENSP00000453346.1:n.2312-64_2312-62del
ENST00000558518.5:c.2312-64_2312-62del ENSP00000454071.1:n.2312-64_2312-62del
ENST00000560628.1:n.108+290_108+292del
NM_000527.4:c.2312-64_2312-62del , LRG_274t1:c.2312-64_2312-62del NP_000518.1:n.2312-64_2312-62del
NM_001195798.1:c.2312-64_2312-62del NP_001182727.1:n.2312-64_2312-62del
NM_001195799.1:c.2189-64_2189-62del NP_001182728.1:n.2189-64_2189-62del
NM_001195800.1:c.1808-64_1808-62del NP_001182729.1:n.1808-64_1808-62del
NM_001195803.1:c.1778-64_1778-62del NP_001182732.1:n.1778-64_1778-62del
XM_011528010.1:c.2312-1569_2312-1567del XP_011526312.1:n.2312-1569_2312-1567del
XM_011528011.1:c.1931-64_1931-62del XP_011526313.1:n.1931-64_1931-62del
XR_244074.2:n.2322-64_2322-62del
XM_011528010.2:c.2312-1569_2312-1567del XP_011526312.1:n.2312-1569_2312-1567del
XR_001753685.2:n.2646-64_2646-62del
XR_001753686.2:n.2289-64_2289-62del
NM_000527.5:c.2312-64_2312-62del MANE Select NP_000518.1:n.2312-64_2312-62del
NM_001195798.2:c.2312-64_2312-62del NP_001182727.1:n.2312-64_2312-62del
NM_001195799.2:c.2189-64_2189-62del NP_001182728.1:n.2189-64_2189-62del
NM_001195800.2:c.1808-64_1808-62del NP_001182729.1:n.1808-64_1808-62del
NM_001195803.2:c.1778-64_1778-62del NP_001182732.1:n.1778-64_1778-62del