Linked Data
ClinVar Variation Id:
15694
ClinVar RCV Id:
RCV000016985
dbSNP Id:
rs587776828
PubMed:
PMID:16798638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172913del , CM000678.2:g.172913del | GRCh38 |
| NC_000016.9:g.222912del , CM000678.1:g.222912del | GRCh37 |
| NC_000016.8:g.162912del | NCBI36 |
| NG_000006.1:g.33776del | |
| NG_059186.1:g.1263del | |
| NG_059271.1:g.5067del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.1del MANE Select | ENSP00000251595.6:p.Met1TrpfsTer? | |
| ENST00000251595.10:c.1del | ENSP00000251595.6:p.Met1TrpfsTer? | |
| ENST00000397806.1:c.-47del | ENSP00000380908.1:n.-47del | |
| ENST00000482565.1:n.20del | ||
| NM_000517.4:c.1del | NP_000508.1:p.Met1TrpfsTer? | |
| NM_000517.6:c.1del MANE Select | NP_000508.1:p.Met1TrpfsTer? |