Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946358_138946375del , CM000665.2:g.138946358_138946375del | GRCh38 |
| NC_000003.11:g.138665200_138665217del , CM000665.1:g.138665200_138665217del | GRCh37 |
| NC_000003.10:g.140147890_140147907del | NCBI36 |
| NG_012454.1:g.5770_5787del | |
| NG_029796.1:g.4125_4142del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.352_369del MANE Select | ENSP00000497217.1:p.Glu118_Arg123del | |
| ENST00000330315.3:c.352_369del | ENSP00000333188.3:p.Glu118_Arg123del | |
| NM_023067.3:c.352_369del | NP_075555.1:p.Glu118_Arg123del | |
| NM_023067.4:c.352_369del MANE Select | NP_075555.1:p.Glu118_Arg123del |