Canonical Allele Identifier: CA2573155718
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1500501
ClinVar RCV Id: RCV002015699
dbSNP Id: rs2147217467
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102784_11102804del , CM000681.2:g.11102784_11102804del GRCh38
NC_000019.9:g.11213460_11213480del , CM000681.1:g.11213460_11213480del GRCh37
NC_000019.8:g.11074460_11074480del NCBI36
NG_009060.1:g.18404_18424del , LRG_274:g.18404_18424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.569_571+18del
ENST00000559340.2:c.311_313+18del
ENST00000560467.2:c.311_313+18del
ENST00000558518.6:c.311_313+18del
ENST00000252444.9:c.565_567+18del
ENST00000455727.6:c.311_313+18del
ENST00000535915.5:c.191-2436_191-2416del ENSP00000440520.1:n.191-2436_191-2416del
ENST00000545707.5:c.311_313+18del
ENST00000557933.5:c.311_313+18del
ENST00000557958.1:n.397_417del
ENST00000558013.5:c.311_313+18del
ENST00000558518.5:c.311_313+18del
NM_000527.4:c.311_313+18del , LRG_274t1:c.311_313+18del
NM_001195798.1:c.311_313+18del
NM_001195799.1:c.191-2436_191-2416del NP_001182728.1:n.191-2436_191-2416del
NM_001195800.1:c.311_313+18del
NM_001195803.1:c.311_313+18del
XM_011528010.1:c.311_313+18del
XM_011528011.1:c.311_313+18del
XR_244074.2:n.461_463+18del
XM_011528010.2:c.311_313+18del
XR_001753685.2:n.428_430+18del
XR_001753686.2:n.428_430+18del
NM_000527.5:c.311_313+18del
NM_001195798.2:c.311_313+18del
NM_001195799.2:c.191-2436_191-2416del NP_001182728.1:n.191-2436_191-2416del
NM_001195800.2:c.311_313+18del
NM_001195803.2:c.311_313+18del
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