Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945741del , CM000665.2:g.138945741del | GRCh38 |
| NC_000003.11:g.138664583del , CM000665.1:g.138664583del | GRCh37 |
| NC_000003.10:g.140147273del | NCBI36 |
| NG_012454.1:g.6400del | |
| NG_029796.1:g.3508del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023067.4:c.982del MANE Select | NP_075555.1:p.Ala328ProfsTer28 |
| ENST00000648323.1:c.982del MANE Select | ENSP00000497217.1:p.Ala328ProfsTer28 |
| NM_023067.3:c.982del | NP_075555.1:p.Ala328ProfsTer28 |
| ENST00000330315.3:c.982del | ENSP00000333188.3:p.Ala328ProfsTer28 |