Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443878del , CM000668.2:g.32443878del | GRCh38 |
| NC_000006.11:g.32411655del , CM000668.1:g.32411655del | GRCh37 |
| NC_000006.10:g.32519633del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.733del MANE Select | ENSP00000378786.2:p.Ser245AlafsTer20 | |
| ENST00000374982.5:c.658del | ENSP00000364121.5:p.Ser220AlafsTer20 | |
| ENST00000395388.6:c.733del | ENSP00000378786.2:p.Ser245AlafsTer20 | |
| NM_019111.4:c.733del | NP_061984.2:p.Ser245AlafsTer20 | |
| NM_019111.5:c.733del MANE Select | NP_061984.2:p.Ser245AlafsTer20 |