Linked Data
ClinVar Variation Id:
438006
ClinVar RCV Id:
RCV000504911
dbSNP Id:
rs1553252528
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675602del , CM000663.2:g.215675602del | GRCh38 |
| NC_000001.10:g.215848944del , CM000663.1:g.215848944del | GRCh37 |
| NC_000001.9:g.213915567del | NCBI36 |
| NG_009497.1:g.752795del | |
| NG_009497.2:g.752847del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.12309del MANE Select | ENSP00000305941.3:p.Phe4103LeufsTer11 | |
| ENST00000674083.1:c.12309del | ENSP00000501296.1:p.Phe4103LeufsTer11 | |
| ENST00000307340.7:c.12309del | ENSP00000305941.3:p.Phe4103LeufsTer11 | |
| NM_206933.2:c.12309del | NP_996816.2:p.Phe4103LeufsTer11 | |
| NM_206933.3:c.12309del | NP_996816.2:p.Phe4103LeufsTer11 | |
| NM_206933.4:c.12309del MANE Select | NP_996816.3:p.Phe4103LeufsTer11 |