Linked Data
ClinVar Variation Id:
10302
ClinVar RCV Id:
RCV000011015
dbSNP Id:
rs387906461
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902119del , CM000685.2:g.154902119del | GRCh38 |
| NC_000023.10:g.154130394del , CM000685.1:g.154130394del | GRCh37 |
| NC_000023.9:g.153783588del | NCBI36 |
| NG_011403.1:g.125607del | |
| NG_011403.2:g.125607del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6049del MANE Select | ENSP00000353393.4:p.Val2017TrpfsTer13 | |
| ENST00000360256.8:c.6049del | ENSP00000353393.4:p.Val2017TrpfsTer13 | |
| NM_000132.3:c.6049del | NP_000123.1:p.Val2017TrpfsTer13 | |
| XM_011531126.1:c.5944del | XP_011529428.1:p.Val1982TrpfsTer13 | |
| NM_000132.4:c.6049del MANE Select | NP_000123.1:p.Val2017TrpfsTer13 |