Linked Data
ClinVar Variation Id:
251805
ClinVar RCV Id:
RCV002379066
dbSNP Id:
rs879254876
MyVariant Identifiers:
chr19:g.11224180_11224188delinsCGGCT (hg19)
chr19:g.11113504_11113512delinsCGGCT (hg38)
ERepo:
CA10585420/MONDO:0007750/013
PubMed:
PMID:8872473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113504_11113512delinsCGGCT , CM000681.2:g.11113504_11113512delinsCGGCT | GRCh38 |
| NC_000019.9:g.11224180_11224188delinsCGGCT , CM000681.1:g.11224180_11224188delinsCGGCT | GRCh37 |
| NC_000019.8:g.11085180_11085188delinsCGGCT | NCBI36 |
| NG_009060.1:g.29124_29132delinsCGGCT , LRG_274:g.29124_29132delinsCGGCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1617-31_1617-23delinsCGGCT (LDLR) | ENSP00000252444.6:n.1617-31_1617-23delins... | |
| ENST00000559340.2:c.1359-31_1359-23delinsCGGCT (LDLR) | ENSP00000453696.2:n.1359-31_1359-23delins... | |
| ENST00000560467.2:c.1239-31_1239-23delinsCGGCT (LDLR) | ENSP00000453513.2:n.1239-31_1239-23delins... | |
| ENST00000558518.6:c.1359-31_1359-23delinsCGGCT (LDLR) MANE Select | ENSP00000454071.1:n.1359-31_1359-23delins... | |
| ENST00000252444.9:c.1613-31_1613-23delinsCGGCT (LDLR) | ||
| ENST00000455727.6:c.855-31_855-23delinsCGGCT (LDLR) | ENSP00000397829.2:n.855-31_855-23delinsCG... | |
| ENST00000535915.5:c.1236-31_1236-23delinsCGGCT (LDLR) | ENSP00000440520.1:n.1236-31_1236-23delins... | |
| ENST00000545707.5:c.978-31_978-23delinsCGGCT (LDLR) | ENSP00000437639.1:n.978-31_978-23delinsCG... | |
| ENST00000557933.5:c.1359-31_1359-23delinsCGGCT (LDLR) | ENSP00000453557.1:n.1359-31_1359-23delins... | |
| ENST00000558013.5:c.1359-31_1359-23delinsCGGCT (LDLR) | ENSP00000453346.1:n.1359-31_1359-23delins... | |
| ENST00000558518.5:c.1359-31_1359-23delinsCGGCT (LDLR) | ENSP00000454071.1:n.1359-31_1359-23delins... | |
| ENST00000559340.1:c.80-31_80-23delinsCGGCT (LDLR) | ||
| ENST00000560467.1:c.839-31_839-23delinsCGGCT (LDLR) | ||
| NM_000527.4:c.1359-31_1359-23delinsCGGCT , LRG_274t1:c.1359-31_1359-23delinsCGGCT (LDLR) | NP_000518.1:n.1359-31_1359-23delinsCGGCT | |
| NM_001195798.1:c.1359-31_1359-23delinsCGGCT (LDLR) | NP_001182727.1:n.1359-31_1359-23delinsCGG... | |
| NM_001195799.1:c.1236-31_1236-23delinsCGGCT (LDLR) | NP_001182728.1:n.1236-31_1236-23delinsCGG... | |
| NM_001195800.1:c.855-31_855-23delinsCGGCT (LDLR) | NP_001182729.1:n.855-31_855-23delinsCGGCT... | |
| NM_001195803.1:c.978-31_978-23delinsCGGCT (LDLR) | NP_001182732.1:n.978-31_978-23delinsCGGCT... | |
| NR_106946.1:n.31_39delinsCGGCT (MIR6886) | ||
| XM_011528010.1:c.1359-31_1359-23delinsCGGCT (LDLR) | XP_011526312.1:n.1359-31_1359-23delinsCGG... | |
| XM_011528011.1:c.978-31_978-23delinsCGGCT (LDLR) | XP_011526313.1:n.978-31_978-23delinsCGGCT... | |
| XR_244074.2:n.1509-31_1509-23delinsCGGCT (LDLR) | ||
| XM_011528010.2:c.1359-31_1359-23delinsCGGCT (LDLR) | XP_011526312.1:n.1359-31_1359-23delinsCGG... | |
| XR_001753685.2:n.1476-31_1476-23delinsCGGCT (LDLR) | ||
| XR_001753686.2:n.1476-31_1476-23delinsCGGCT (LDLR) | ||
| NM_000527.5:c.1359-31_1359-23delinsCGGCT (LDLR) MANE Select | NP_000518.1:n.1359-31_1359-23delinsCGGCT | |
| NM_001195798.2:c.1359-31_1359-23delinsCGGCT (LDLR) | NP_001182727.1:n.1359-31_1359-23delinsCGG... | |
| NM_001195799.2:c.1236-31_1236-23delinsCGGCT (LDLR) | NP_001182728.1:n.1236-31_1236-23delinsCGG... | |
| NM_001195800.2:c.855-31_855-23delinsCGGCT (LDLR) | NP_001182729.1:n.855-31_855-23delinsCGGCT... | |
| NM_001195803.2:c.978-31_978-23delinsCGGCT (LDLR) | NP_001182732.1:n.978-31_978-23delinsCGGCT... |