Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371351_60371356delinsTTAATA , CM000680.2:g.60371351_60371356delinsTTAATA | GRCh38 |
| NC_000018.9:g.58038584_58038589delinsTTAATA , CM000680.1:g.58038584_58038589delinsTTAATA | GRCh37 |
| NC_000018.8:g.56189564_56189569delinsTTAATA | NCBI36 |
| NG_016441.1:g.6413_6418delinsTATTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.994_999delinsTATTAA MANE Select | ENSP00000299766.3:p.Tyr332= | |
| ENST00000299766.4:c.994_999delinsTATTAA | ENSP00000299766.3:p.Tyr332= | |
| NM_005912.2:c.994_999delinsTATTAA | NP_005903.2:p.Tyr332= | |
| NM_005912.3:c.994_999delinsTATTAA MANE Select | NP_005903.2:p.Tyr332= |