Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945881_138945882insA , CM000665.2:g.138945881_138945882insA | GRCh38 |
| NC_000003.11:g.138664723_138664724insA , CM000665.1:g.138664723_138664724insA | GRCh37 |
| NC_000003.10:g.140147413_140147414insA | NCBI36 |
| NG_012454.1:g.6259_6260insT | |
| NG_029796.1:g.3648_3649insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.841_842insT MANE Select | ENSP00000497217.1:p.Pro281LeufsTer? | |
| ENST00000330315.3:c.841_842insT | ENSP00000333188.3:p.Pro281LeufsTer? | |
| NM_023067.3:c.841_842insT | NP_075555.1:p.Pro281LeufsTer? | |
| NM_023067.4:c.841_842insT MANE Select | NP_075555.1:p.Pro281LeufsTer? |