Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013353_25013354insCA , CM000685.2:g.25013353_25013354insCA | GRCh38 |
| NC_000023.10:g.25031470_25031471insCA , CM000685.1:g.25031470_25031471insCA | GRCh37 |
| NC_000023.9:g.24941391_24941392insCA | NCBI36 |
| NG_008281.1:g.7595_7596insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.641_642insTG MANE Select | ENSP00000368332.4:p.Pro215AlafsTer? | |
| ENST00000379044.4:c.641_642insTG | ENSP00000368332.4:p.Pro215AlafsTer? | |
| NM_139058.2:c.641_642insTG | NP_620689.1:p.Pro215AlafsTer? | |
| NM_139058.3:c.641_642insTG MANE Select | NP_620689.1:p.Pro215AlafsTer? |