Linked Data
ClinVar Variation Id:
203464
ClinVar RCV Id:
RCV000185619
dbSNP Id:
rs875989814
PubMed:
PMID:25913037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040485del , CM000664.2:g.86040485del | GRCh38 |
| NC_000002.11:g.86267608del , CM000664.1:g.86267608del | GRCh37 |
| NC_000002.10:g.86121119del | NCBI36 |
| NG_050742.2:g.70673del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263857.11:c.3649del MANE Select | ENSP00000263857.6:p.Gln1217ArgfsTer10 | |
| ENST00000263857.10:c.3649del | ENSP00000263857.6:p.Gln1217ArgfsTer10 | |
| ENST00000409681.1:c.3649del | ENSP00000386300.1:p.Gln1217ArgfsTer10 | |
| ENST00000462078.1:n.37del | ||
| NM_015425.3:c.3649del | NP_056240.2:p.Gln1217ArgfsTer10 | |
| XM_006711983.2:c.3325del | XP_006712046.1:p.Gln1109ArgfsTer10 | |
| NM_015425.5:c.3649del | NP_056240.2:p.Gln1217ArgfsTer10 | |
| NM_015425.6:c.3649del MANE Select | NP_056240.2:p.Gln1217ArgfsTer10 |