Canonical Allele Identifier: CA2576626185
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123380del , CM000681.2:g.11123380del GRCh38
NC_000019.9:g.11234056del , CM000681.1:g.11234056del GRCh37
NC_000019.8:g.11095056del NCBI36
NG_009060.1:g.39000del , LRG_274:g.39000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2569+36del ENSP00000252444.6:n.2569+36del
ENST00000559340.2:c.*380+36del ENSP00000453696.2:n.*380+36del
ENST00000560467.2:c.2191+36del ENSP00000453513.2:n.2191+36del
ENST00000558518.6:c.2311+36del MANE Select ENSP00000454071.1:n.2311+36del
ENST00000252444.9:c.2565+36del
ENST00000455727.6:c.1807+36del ENSP00000397829.2:n.1807+36del
ENST00000535915.5:c.2188+36del ENSP00000440520.1:n.2188+36del
ENST00000545707.5:c.1777+36del ENSP00000437639.1:n.1777+36del
ENST00000557933.5:c.2311+36del ENSP00000453557.1:n.2311+36del
ENST00000558013.5:c.2311+36del ENSP00000453346.1:n.2311+36del
ENST00000558518.5:c.2311+36del ENSP00000454071.1:n.2311+36del
NM_000527.4:c.2311+36del , LRG_274t1:c.2311+36del NP_000518.1:n.2311+36del
NM_001195798.1:c.2311+36del NP_001182727.1:n.2311+36del
NM_001195799.1:c.2188+36del NP_001182728.1:n.2188+36del
NM_001195800.1:c.1807+36del NP_001182729.1:n.1807+36del
NM_001195803.1:c.1777+36del NP_001182732.1:n.1777+36del
XM_011528010.1:c.2311+36del XP_011526312.1:n.2311+36del
XM_011528011.1:c.1930+36del XP_011526313.1:n.1930+36del
XR_244074.2:n.2321+36del
XM_011528010.2:c.2311+36del XP_011526312.1:n.2311+36del
XR_001753685.2:n.2645+36del
XR_001753686.2:n.2288+36del
NM_000527.5:c.2311+36del MANE Select NP_000518.1:n.2311+36del
NM_001195798.2:c.2311+36del NP_001182727.1:n.2311+36del
NM_001195799.2:c.2188+36del NP_001182728.1:n.2188+36del
NM_001195800.2:c.1807+36del NP_001182729.1:n.1807+36del
NM_001195803.2:c.1777+36del NP_001182732.1:n.1777+36del
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