Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154905016_154905018delinsTC , CM000685.2:g.154905016_154905018delinsTC | GRCh38 |
| NC_000023.10:g.154133291_154133293delinsTC , CM000685.1:g.154133291_154133293delinsTC | GRCh37 |
| NC_000023.9:g.153786485_153786487delinsTC | NCBI36 |
| NG_011403.1:g.122706_122708delinsGA | |
| NG_011403.2:g.122706_122708delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5379_5381delinsGA MANE Select | ENSP00000353393.4:p.Phe1794ThrfsTer? | |
| ENST00000360256.8:c.5379_5381delinsGA | ENSP00000353393.4:p.Phe1794ThrfsTer? | |
| NM_000132.3:c.5379_5381delinsGA | NP_000123.1:p.Phe1794ThrfsTer? | |
| XM_011531126.1:c.5274_5276delinsGA | XP_011529428.1:p.Phe1759ThrfsTer? | |
| NM_000132.4:c.5379_5381delinsGA MANE Select | NP_000123.1:p.Phe1794ThrfsTer? |