Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946385del , CM000665.2:g.138946385del | GRCh38 |
| NC_000003.11:g.138665227del , CM000665.1:g.138665227del | GRCh37 |
| NC_000003.10:g.140147917del | NCBI36 |
| NG_012454.1:g.5756del | |
| NG_029796.1:g.4152del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.338del MANE Select | ENSP00000497217.1:p.Ile113ThrfsTer? | |
| ENST00000330315.3:c.338del | ENSP00000333188.3:p.Ile113ThrfsTer? | |
| NM_023067.3:c.338del | NP_075555.1:p.Ile113ThrfsTer? | |
| NM_023067.4:c.338del MANE Select | NP_075555.1:p.Ile113ThrfsTer? |