Canonical Allele Identifier: CA10583776
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 237862
ClinVar RCV Id: RCV000233954 RCV001337839
dbSNP Id: rs878854024
MyVariant Identifiers: chr19:g.11222227_11222238del (hg19) chr19:g.11111551_11111562del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111551_11111562del , CM000681.2:g.11111551_11111562del GRCh38
NC_000019.9:g.11222227_11222238del , CM000681.1:g.11222227_11222238del GRCh37
NC_000019.8:g.11083227_11083238del NCBI36
NG_009060.1:g.27171_27182del , LRG_274:g.27171_27182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1356_1367del ENSP00000252444.6:p.Gln452_Asn456delinsHis
ENST00000559340.2:c.1098_1109del ENSP00000453696.2:p.Gln366_Asn370delinsHis
ENST00000560467.2:c.978_989del ENSP00000453513.2:p.Gln326_Asn330delinsHis
ENST00000558518.6:c.1098_1109del MANE Select ENSP00000454071.1:p.Gln366_Asn370delinsHis
ENST00000252444.9:c.1352_1363del
ENST00000455727.6:c.594_605del ENSP00000397829.2:p.Gln198_Asn202delinsHis
ENST00000535915.5:c.975_986del ENSP00000440520.1:p.Gln325_Asn329delinsHis
ENST00000545707.5:c.717_728del ENSP00000437639.1:p.Gln239_Asn243delinsHis
ENST00000557933.5:c.1098_1109del ENSP00000453557.1:p.Gln366_Asn370delinsHis
ENST00000558013.5:c.1098_1109del ENSP00000453346.1:p.Gln366_Asn370delinsHis
ENST00000558518.5:c.1098_1109del ENSP00000454071.1:p.Gln366_Asn370delinsHis
ENST00000560173.1:n.97_108del
ENST00000560467.1:c.578_589del
NM_000527.4:c.1098_1109del , LRG_274t1:c.1098_1109del NP_000518.1:p.Gln366_Asn370delinsHis
NM_001195798.1:c.1098_1109del NP_001182727.1:p.Gln366_Asn370delinsHis
NM_001195799.1:c.975_986del NP_001182728.1:p.Gln325_Asn329delinsHis
NM_001195800.1:c.594_605del NP_001182729.1:p.Gln198_Asn202delinsHis
NM_001195803.1:c.717_728del NP_001182732.1:p.Gln239_Asn243delinsHis
XM_011528010.1:c.1098_1109del XP_011526312.1:p.Gln366_Asn370delinsHis
XM_011528011.1:c.717_728del XP_011526313.1:p.Gln239_Asn243delinsHis
XR_244074.2:n.1248_1259del
XM_011528010.2:c.1098_1109del XP_011526312.1:p.Gln366_Asn370delinsHis
XR_001753685.2:n.1215_1226del
XR_001753686.2:n.1215_1226del
NM_000527.5:c.1098_1109del MANE Select NP_000518.1:p.Gln366_Asn370delinsHis
NM_001195798.2:c.1098_1109del NP_001182727.1:p.Gln366_Asn370delinsHis
NM_001195799.2:c.975_986del NP_001182728.1:p.Gln325_Asn329delinsHis
NM_001195800.2:c.594_605del NP_001182729.1:p.Gln198_Asn202delinsHis
NM_001195803.2:c.717_728del NP_001182732.1:p.Gln239_Asn243delinsHis
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