Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304839_78304840delinsTG , CM000671.2:g.78304839_78304840delinsTG | GRCh38 |
| NC_000009.11:g.80919755_80919756delinsTG , CM000671.1:g.80919755_80919756delinsTG | GRCh37 |
| NC_000009.10:g.80109575_80109576delinsTG | NCBI36 |
| NG_012165.1:g.12697_12698delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058179.4:c.296_297delinsTG MANE Select | NP_478059.1:p.Ala99Val |
| ENST00000376588.4:c.296_297delinsTG MANE Select | ENSP00000365773.3:p.Ala99Val |
| NM_021154.4:c.296_297delinsTG | NP_066977.1:p.Ala99Val |
| NM_021154.5:c.296_297delinsTG | NP_066977.1:p.Ala99Val |
| NM_058179.3:c.296_297delinsTG | NP_478059.1:p.Ala99Val |
| ENST00000347159.6:c.296_297delinsTG | ENSP00000317606.2:p.Ala99Val |
| ENST00000376588.3:c.296_297delinsTG | ENSP00000365773.3:p.Ala99Val |