Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001923del , CM000663.2:g.94001923del | GRCh38 |
| NC_000001.10:g.94467479del , CM000663.1:g.94467479del | GRCh37 |
| NC_000001.9:g.94240067del | NCBI36 |
| NG_009073.1:g.124231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6221del MANE Select | ENSP00000359245.3:p.Gly2074AlafsTer? | |
| ENST00000370225.3:c.6221del | ENSP00000359245.3:p.Gly2074AlafsTer? | |
| ENST00000465352.1:n.637del | ||
| ENST00000536513.5:c.2597del | ENSP00000439707.2:p.Gly866AlafsTer? | |
| NM_000350.2:c.6221del | NP_000341.2:p.Gly2074AlafsTer? | |
| NM_000350.3:c.6221del MANE Select | NP_000341.2:p.Gly2074AlafsTer? |