Linked Data
ClinVar Variation Id:
250941
ClinVar RCV Id:
RCV000238310
dbSNP Id:
rs879254363
PubMed:
PMID:9610768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089364_11089366del , CM000681.2:g.11089364_11089366del | GRCh38 |
| NC_000019.9:g.11200040_11200042del , CM000681.1:g.11200040_11200042del | GRCh37 |
| NC_000019.8:g.11061040_11061042del | NCBI36 |
| NG_009060.1:g.4984_4986del , LRG_274:g.4984_4986del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558518.5:c.-185_-183del (LDLR) | ENSP00000454071.1:n.-185_-183del | |
| NM_000527.4:c.-185_-183del , LRG_274t1:c.-185_-183del (LDLR) | NP_000518.1:n.-185_-183del | |
| NM_001195798.1:c.-185_-183del (LDLR) | NP_001182727.1:n.-185_-183del | |
| NM_001195799.1:c.-185_-183del (LDLR) | NP_001182728.1:n.-185_-183del | |
| NM_001195800.1:c.-185_-183del (LDLR) | NP_001182729.1:n.-185_-183del | |
| NM_001195803.1:c.-185_-183del (LDLR) | NP_001182732.1:n.-185_-183del | |
| NR_163945.1:n.295_297del (LDLR-AS1) |