Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794467_77794471delinsTTGTC , CM000671.2:g.77794467_77794471delinsTTGTC | GRCh38 |
| NC_000009.11:g.80409383_80409387delinsTTGTC , CM000671.1:g.80409383_80409387delinsTTGTC | GRCh37 |
| NC_000009.10:g.79599203_79599207delinsTTGTC | NCBI36 |
| NG_027904.2:g.241833_241837delinsGACAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.727_731delinsGACAA MANE Select | ENSP00000286548.4:p.Asp243= | |
| ENST00000286548.8:c.727_731delinsGACAA | ENSP00000286548.4:p.Asp243= | |
| NM_002072.4:c.727_731delinsGACAA | NP_002063.2:p.Asp243= | |
| XM_017014628.2:c.553_557delinsGACAA | XP_016870117.1:p.Asp185= | |
| NM_002072.5:c.727_731delinsGACAA MANE Select | NP_002063.2:p.Asp243= |