Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904830_154904833del , CM000685.2:g.154904830_154904833del | GRCh38 |
| NC_000023.10:g.154133105_154133108del , CM000685.1:g.154133105_154133108del | GRCh37 |
| NC_000023.9:g.153786299_153786302del | NCBI36 |
| NG_011403.1:g.122891_122894del | |
| NG_011403.2:g.122891_122894del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5564_5567del MANE Select | ENSP00000353393.4:p.Ala1855ValfsTer15 | |
| ENST00000360256.8:c.5564_5567del | ENSP00000353393.4:p.Ala1855ValfsTer15 | |
| NM_000132.3:c.5564_5567del | NP_000123.1:p.Ala1855ValfsTer15 | |
| XM_011531126.1:c.5459_5462del | XP_011529428.1:p.Ala1820ValfsTer15 | |
| NM_000132.4:c.5564_5567del MANE Select | NP_000123.1:p.Ala1855ValfsTer15 |