Canonical Allele Identifier: CA2582474399
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11111499-TTCTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111505_11111508del , CM000681.2:g.11111505_11111508del GRCh38
NC_000019.9:g.11222181_11222184del , CM000681.1:g.11222181_11222184del GRCh37
NC_000019.8:g.11083181_11083184del NCBI36
NG_009060.1:g.27125_27128del , LRG_274:g.27125_27128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1319-9_1319-6del ENSP00000252444.6:n.1319-9_1319-6del
ENST00000559340.2:c.1061-9_1061-6del ENSP00000453696.2:n.1061-9_1061-6del
ENST00000560467.2:c.941-9_941-6del ENSP00000453513.2:n.941-9_941-6del
ENST00000558518.6:c.1061-9_1061-6del MANE Select ENSP00000454071.1:n.1061-9_1061-6del
ENST00000252444.9:c.1315-9_1315-6del
ENST00000455727.6:c.557-9_557-6del ENSP00000397829.2:n.557-9_557-6del
ENST00000535915.5:c.938-9_938-6del ENSP00000440520.1:n.938-9_938-6del
ENST00000545707.5:c.680-9_680-6del ENSP00000437639.1:n.680-9_680-6del
ENST00000557933.5:c.1061-9_1061-6del ENSP00000453557.1:n.1061-9_1061-6del
ENST00000558013.5:c.1061-9_1061-6del ENSP00000453346.1:n.1061-9_1061-6del
ENST00000558518.5:c.1061-9_1061-6del ENSP00000454071.1:n.1061-9_1061-6del
ENST00000560173.1:n.60-9_60-6del
ENST00000560467.1:c.541-9_541-6del
NM_000527.4:c.1061-9_1061-6del , LRG_274t1:c.1061-9_1061-6del NP_000518.1:n.1061-9_1061-6del
NM_001195798.1:c.1061-9_1061-6del NP_001182727.1:n.1061-9_1061-6del
NM_001195799.1:c.938-9_938-6del NP_001182728.1:n.938-9_938-6del
NM_001195800.1:c.557-9_557-6del NP_001182729.1:n.557-9_557-6del
NM_001195803.1:c.680-9_680-6del NP_001182732.1:n.680-9_680-6del
XM_011528010.1:c.1061-9_1061-6del XP_011526312.1:n.1061-9_1061-6del
XM_011528011.1:c.680-9_680-6del XP_011526313.1:n.680-9_680-6del
XR_244074.2:n.1211-9_1211-6del
XM_011528010.2:c.1061-9_1061-6del XP_011526312.1:n.1061-9_1061-6del
XR_001753685.2:n.1178-9_1178-6del
XR_001753686.2:n.1178-9_1178-6del
NM_000527.5:c.1061-9_1061-6del MANE Select NP_000518.1:n.1061-9_1061-6del
NM_001195798.2:c.1061-9_1061-6del NP_001182727.1:n.1061-9_1061-6del
NM_001195799.2:c.938-9_938-6del NP_001182728.1:n.938-9_938-6del
NM_001195800.2:c.557-9_557-6del NP_001182729.1:n.557-9_557-6del
NM_001195803.2:c.680-9_680-6del NP_001182732.1:n.680-9_680-6del
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