gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176947del , CM000678.2:g.176947del | GRCh38 |
| NC_000016.9:g.226946del , CM000678.1:g.226946del | GRCh37 |
| NC_000016.8:g.166946del | NCBI36 |
| NG_000006.1:g.37810del | |
| NG_059186.1:g.5297del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.114del MANE Select | ENSP00000322421.5:p.Thr39ProfsTer11 | |
| ENST00000397797.1:c.18del | ENSP00000380899.1:p.Thr7ProfsTer11 | |
| ENST00000472694.1:n.250del | ||
| ENST00000487791.1:n.83del | ||
| NM_000558.4:c.114del | NP_000549.1:p.Thr39ProfsTer11 | |
| NM_000558.5:c.114del MANE Select | NP_000549.1:p.Thr39ProfsTer11 |