ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340309_146340316del , CM000667.2:g.146340309_146340316del | GRCh38 |
| NC_000005.9:g.145719872_145719879del , CM000667.1:g.145719872_145719879del | GRCh37 |
| NC_000005.8:g.145700065_145700072del | NCBI36 |
| NG_011885.1:g.6286_6293del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.882_889del MANE Select | ENSP00000495718.1:p.Ile295ThrfsTer5 | |
| ENST00000230732.4:c.882_889del | ENSP00000230732.4:p.Ile295ThrfsTer5 | |
| NM_002700.2:c.882_889del | NP_002691.1:p.Ile295ThrfsTer5 | |
| NM_002700.3:c.882_889del MANE Select | NP_002691.1:p.Ile295ThrfsTer5 |