Canonical Allele Identifier: CA2697556241
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2725293
ClinVar RCV Id: RCV003581178
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102728_11102984del , CM000681.2:g.11102728_11102984del GRCh38
NC_000019.9:g.11213404_11213660del , CM000681.1:g.11213404_11213660del GRCh37
NC_000019.8:g.11074404_11074660del NCBI36
NG_009060.1:g.18348_18604del , LRG_274:g.18348_18604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.513_571+198del
ENST00000559340.2:c.255_313+198del
ENST00000560467.2:c.255_313+198del
ENST00000558518.6:c.255_313+198del
ENST00000252444.9:c.509_567+198del
ENST00000455727.6:c.255_313+198del
ENST00000535915.5:c.190+2383_191-2236del ENSP00000440520.1:n.190+2383_191-2236del
ENST00000545707.5:c.255_313+198del
ENST00000557933.5:c.255_313+198del
ENST00000557958.1:n.341_597del
ENST00000558013.5:c.255_313+198del
ENST00000558518.5:c.255_313+198del
NM_000527.4:c.255_313+198del , LRG_274t1:c.255_313+198del
NM_001195798.1:c.255_313+198del
NM_001195799.1:c.190+2383_191-2236del NP_001182728.1:n.190+2383_191-2236del
NM_001195800.1:c.255_313+198del
NM_001195803.1:c.255_313+198del
XM_011528010.1:c.255_313+198del
XM_011528011.1:c.255_313+198del
XR_244074.2:n.405_463+198del
XM_011528010.2:c.255_313+198del
XR_001753685.2:n.372_430+198del
XR_001753686.2:n.372_430+198del
NM_000527.5:c.255_313+198del
NM_001195798.2:c.255_313+198del
NM_001195799.2:c.190+2383_191-2236del NP_001182728.1:n.190+2383_191-2236del
NM_001195800.2:c.255_313+198del
NM_001195803.2:c.255_313+198del
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