Linked Data
dbSNP Id:
rs281860526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271128del , CM000668.2:g.31271128del | GRCh38 |
| NC_000006.11:g.31238905del , CM000668.1:g.31238905del | GRCh37 |
| NC_000006.10:g.31346884del | NCBI36 |
| NG_029422.2:g.6004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.564del MANE Select | ENSP00000365402.5:p.Cys188TrpfsTer26 | |
| ENST00000376228.9:c.564del | ENSP00000365402.5:p.Cys188TrpfsTer26 | |
| ENST00000376237.8:c.*151del | ENSP00000365412.4:n.*151del | |
| ENST00000383329.7:c.564del | ENSP00000372819.3:p.Cys188TrpfsTer26 | |
| ENST00000415537.1:c.562del | ||
| ENST00000484378.1:n.833del | ||
| ENST00000487245.5:n.923del | ||
| ENST00000495835.1:n.753del | ||
| NM_002117.5:c.564del | NP_002108.4:p.Cys188TrpfsTer26 | |
| NM_002117.6:c.564del MANE Select | NP_002108.4:p.Cys188TrpfsTer26 |