Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81499157del , CM000665.2:g.81499157del | GRCh38 |
| NC_000003.11:g.81548308del , CM000665.1:g.81548308del | GRCh37 |
| NC_000003.10:g.81630998del | NCBI36 |
| NG_011810.1:g.267650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.2011del MANE Select | ENSP00000410833.2:p.Ser671LeufsTer? | |
| ENST00000429644.6:c.2011del | ENSP00000410833.2:p.Ser671LeufsTer? | |
| ENST00000489715.1:c.1888del | ENSP00000419638.1:p.Ser630LeufsTer? | |
| NM_000158.3:c.2011del | NP_000149.3:p.Ser671LeufsTer? | |
| NM_000158.4:c.2011del MANE Select | NP_000149.4:p.Ser671LeufsTer? |