Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945746_138945747insCAGCTCAGCCC , CM000665.2:g.138945746_138945747insCAGCTCAGCCC | GRCh38 |
| NC_000003.11:g.138664588_138664589insCAGCTCAGCCC , CM000665.1:g.138664588_138664589insCAGCTCAGCCC | GRCh37 |
| NC_000003.10:g.140147278_140147279insCAGCTCAGCCC | NCBI36 |
| NG_012454.1:g.6395_6396insGGCTGAGCTGG | |
| NG_029796.1:g.3513_3514insCAGCTCAGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.977_978insGGCTGAGCTGG MANE Select | ENSP00000497217.1:p.Ser326ArgfsTer34 | |
| ENST00000330315.3:c.977_978insGGCTGAGCTGG | ENSP00000333188.3:p.Ser326ArgfsTer34 | |
| NM_023067.3:c.977_978insGGCTGAGCTGG | NP_075555.1:p.Ser326ArgfsTer34 | |
| NM_023067.4:c.977_978insGGCTGAGCTGG MANE Select | NP_075555.1:p.Ser326ArgfsTer34 |