Linked Data
ClinVar Variation Id:
2680390
ClinVar RCV Id:
RCV003460327
dbSNP Id:
rs1332454949
gnomAD v2:
15-42681192-AG-A
gnomAD v4:
15-42388994-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42388998del , CM000677.2:g.42388998del | GRCh38 |
| NC_000015.9:g.42681196del , CM000677.1:g.42681196del | GRCh37 |
| NC_000015.8:g.40468488del | NCBI36 |
| NG_008660.1:g.45896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.703del | ENSP00000183936.4:p.Val235TrpfsTer18 | |
| ENST00000357568.8:c.703del | ENSP00000350181.3:p.Val235TrpfsTer18 | |
| ENST00000397163.8:c.703del MANE Select | ENSP00000380349.3:p.Val235TrpfsTer18 | |
| ENST00000466369.5:n.1212del | ||
| ENST00000483208.5:n.934del | ||
| ENST00000495723.1:n.934del | ||
| ENST00000549793.5:n.934del | ||
| ENST00000638141.2:n.718del | ||
| ENST00000673705.1:c.70+4446del | ENSP00000501021.1:n.70+4446del | |
| ENST00000318023.11:c.703del | ENSP00000326281.8:p.Val235TrpfsTer18 | |
| ENST00000349748.7:c.703del | ENSP00000183936.4:p.Val235TrpfsTer18 | |
| ENST00000357568.7:c.703del | ENSP00000350181.3:p.Val235TrpfsTer18 | |
| ENST00000397163.7:c.703del | ENSP00000380349.3:p.Val235TrpfsTer18 | |
| NM_000070.2:c.703del | NP_000061.1:p.Val235TrpfsTer18 | |
| NM_024344.1:c.703del | NP_077320.1:p.Val235TrpfsTer18 | |
| NM_173087.1:c.703del | NP_775110.1:p.Val235TrpfsTer18 | |
| NM_000070.3:c.703del MANE Select | NP_000061.1:p.Val235TrpfsTer18 | |
| NM_024344.2:c.703del | NP_077320.1:p.Val235TrpfsTer18 | |
| NM_173087.2:c.703del | NP_775110.1:p.Val235TrpfsTer18 |