Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860279_4860280insGTATCATTAAAAAA , CM000666.2:g.4860279_4860280insGTATCATTAAAAAA | GRCh38 |
| NC_000004.11:g.4862006_4862007insGTATCATTAAAAAA , CM000666.1:g.4862006_4862007insGTATCATTAAAAAA | GRCh37 |
| NC_000004.10:g.4912907_4912908insGTATCATTAAAAAA | NCBI36 |
| NG_008121.1:g.5615_5616insGTATCATTAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.380_381insGTATCATTAAAAAA MANE Select | ENSP00000372170.4:p.Glu128TyrfsTer3 | |
| ENST00000382723.4:c.380_381insGTATCATTAAAAAA | ENSP00000372170.4:p.Glu128TyrfsTer3 | |
| NM_002448.3:c.380_381insGTATCATTAAAAAA MANE Select | NP_002439.2:p.Glu128TyrfsTer3 |