Linked Data
ClinVar Variation Id:
2236795
ClinVar RCV Id:
RCV002718822
dbSNP Id:
rs113994120
PubMed:
PMID:20301785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912126_4912128del , CM000674.2:g.4912126_4912128del | GRCh38 |
| NC_000012.11:g.5021292_5021294del , CM000674.1:g.5021292_5021294del | GRCh37 |
| NC_000012.10:g.4891553_4891555del | NCBI36 |
| NG_011815.1:g.7220_7222del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.748_750del MANE Select | ENSP00000371985.3:p.Phe250del | |
| ENST00000543874.3:n.105+1654_105+1656del | ||
| ENST00000639306.1:c.586_588del | ENSP00000492506.1:p.Phe196del | |
| ENST00000382545.3:c.748_750del | ENSP00000371985.3:p.Phe250del | |
| ENST00000541095.1:n.105+1654_105+1656del | ||
| ENST00000543874.2:n.96+1654_96+1656del | ||
| NM_000217.2:c.748_750del | NP_000208.2:p.Phe250del | |
| NM_000217.3:c.748_750del MANE Select | NP_000208.2:p.Phe250del |