Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945882_138945883insA , CM000665.2:g.138945882_138945883insA | GRCh38 |
| NC_000003.11:g.138664724_138664725insA , CM000665.1:g.138664724_138664725insA | GRCh37 |
| NC_000003.10:g.140147414_140147415insA | NCBI36 |
| NG_012454.1:g.6258_6259insT | |
| NG_029796.1:g.3649_3650insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.840_841insT MANE Select | ENSP00000497217.1:p.Pro281SerfsTer? | |
| ENST00000330315.3:c.840_841insT | ENSP00000333188.3:p.Pro281SerfsTer? | |
| NM_023067.3:c.840_841insT | NP_075555.1:p.Pro281SerfsTer? | |
| NM_023067.4:c.840_841insT MANE Select | NP_075555.1:p.Pro281SerfsTer? |