Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997922_93997923del , CM000663.2:g.93997922_93997923del | GRCh38 |
| NC_000001.10:g.94463478_94463479del , CM000663.1:g.94463478_94463479del | GRCh37 |
| NC_000001.9:g.94236066_94236067del | NCBI36 |
| NG_009073.1:g.128230_128231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6670_6671del MANE Select | ENSP00000359245.3:p.Ser2224ProfsTer26 | |
| ENST00000370225.3:c.6670_6671del | ENSP00000359245.3:p.Ser2224ProfsTer26 | |
| ENST00000536513.5:c.3046_3047del | ENSP00000439707.2:p.Ser1016ProfsTer26 | |
| NM_000350.2:c.6670_6671del | NP_000341.2:p.Ser2224ProfsTer26 | |
| NM_000350.3:c.6670_6671del MANE Select | NP_000341.2:p.Ser2224ProfsTer26 |