Canonical Allele Identifier: CA250468
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1555803632
MyVariant Identifiers: chr19:g.11217145_11217917del (hg19) chr19:g.11106469_11107241del (hg38)
PubMed: PMID:1301956 PMID:3549308
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106469_11107241del , CM000681.2:g.11106469_11107241del GRCh38
NC_000019.9:g.11217145_11217917del , CM000681.1:g.11217145_11217917del GRCh37
NC_000019.8:g.11078145_11078917del NCBI36
NG_009060.1:g.22089_22861del , LRG_274:g.22089_22861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.953-96_1076-151del
ENST00000559340.2:c.695-96_818-151del
ENST00000560467.2:c.695-96_818-151del
ENST00000558518.6:c.695-96_818-151del
ENST00000252444.9:c.949-96_1072-151del
ENST00000455727.6:c.314-923_314-151del ENSP00000397829.2:n.314-923_314-151del
ENST00000535915.5:c.572-96_695-151del
ENST00000545707.5:c.314-96_437-151del
ENST00000557933.5:c.695-96_818-151del
ENST00000558013.5:c.695-96_818-151del
ENST00000558518.5:c.695-96_818-151del
ENST00000558528.1:n.114_333-151del
ENST00000560467.1:c.295-96_418-151del
NM_000527.4:c.695-96_818-151del , LRG_274t1:c.695-96_818-151del
NM_001195798.1:c.695-96_818-151del
NM_001195799.1:c.572-96_695-151del
NM_001195800.1:c.314-923_314-151del NP_001182729.1:n.314-923_314-151del
NM_001195803.1:c.314-96_437-151del
XM_011528010.1:c.695-96_818-151del
XM_011528011.1:c.314-96_437-151del
XR_244074.2:n.845-96_968-151del
XM_011528010.2:c.695-96_818-151del
XR_001753685.2:n.812-96_935-151del
XR_001753686.2:n.812-96_935-151del
NM_000527.5:c.695-96_818-151del
NM_001195798.2:c.695-96_818-151del
NM_001195799.2:c.572-96_695-151del
NM_001195800.2:c.314-923_314-151del NP_001182729.1:n.314-923_314-151del
NM_001195803.2:c.314-96_437-151del
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