Canonical Allele Identifier: CA10585129
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251450
ClinVar RCV Id: RCV000238454
dbSNP Id: rs879254673
MyVariant Identifiers: chr19:g.11217322_11217323del (hg19) chr19:g.11106646_11106647del (hg38)
PubMed: PMID:16250003
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106646_11106647del , CM000681.2:g.11106646_11106647del GRCh38
NC_000019.9:g.11217322_11217323del , CM000681.1:g.11217322_11217323del GRCh37
NC_000019.8:g.11078322_11078323del NCBI36
NG_009060.1:g.22266_22267del , LRG_274:g.22266_22267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1034_1035del ENSP00000252444.6:p.Tyr345Ter
ENST00000559340.2:c.776_777del ENSP00000453696.2:p.Tyr259Ter
ENST00000560467.2:c.776_777del ENSP00000453513.2:p.Tyr259Ter
ENST00000558518.6:c.776_777del MANE Select ENSP00000454071.1:p.Tyr259Ter
ENST00000252444.9:c.1030_1031del
ENST00000455727.6:c.314-746_314-745del ENSP00000397829.2:n.314-746_314-745del
ENST00000535915.5:c.653_654del ENSP00000440520.1:p.Tyr218Ter
ENST00000545707.5:c.395_396del ENSP00000437639.1:p.Tyr132Ter
ENST00000557933.5:c.776_777del ENSP00000453557.1:p.Tyr259Ter
ENST00000558013.5:c.776_777del ENSP00000453346.1:p.Tyr259Ter
ENST00000558518.5:c.776_777del ENSP00000454071.1:p.Tyr259Ter
ENST00000558528.1:n.291_292del
ENST00000560467.1:c.376_377del
NM_000527.4:c.776_777del , LRG_274t1:c.776_777del NP_000518.1:p.Tyr259Ter
NM_001195798.1:c.776_777del NP_001182727.1:p.Tyr259Ter
NM_001195799.1:c.653_654del NP_001182728.1:p.Tyr218Ter
NM_001195800.1:c.314-746_314-745del NP_001182729.1:n.314-746_314-745del
NM_001195803.1:c.395_396del NP_001182732.1:p.Tyr132Ter
XM_011528010.1:c.776_777del XP_011526312.1:p.Tyr259Ter
XM_011528011.1:c.395_396del XP_011526313.1:p.Tyr132Ter
XR_244074.2:n.926_927del
XM_011528010.2:c.776_777del XP_011526312.1:p.Tyr259Ter
XR_001753685.2:n.893_894del
XR_001753686.2:n.893_894del
NM_000527.5:c.776_777del MANE Select NP_000518.1:p.Tyr259Ter
NM_001195798.2:c.776_777del NP_001182727.1:p.Tyr259Ter
NM_001195799.2:c.653_654del NP_001182728.1:p.Tyr218Ter
NM_001195800.2:c.314-746_314-745del NP_001182729.1:n.314-746_314-745del
NM_001195803.2:c.395_396del NP_001182732.1:p.Tyr132Ter
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