Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400708_18400709insA , CM000670.2:g.18400708_18400709insA | GRCh38 |
| NC_000008.10:g.18258218_18258219insA , CM000670.1:g.18258218_18258219insA | GRCh37 |
| NC_000008.9:g.18302498_18302499insA | NCBI36 |
| NG_012246.1:g.14464_14465insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.705_706insA MANE Select | ENSP00000286479.3:p.Gly236ArgfsTer7 | |
| ENST00000286479.3:c.705_706insA | ENSP00000286479.3:p.Gly236ArgfsTer7 | |
| ENST00000520116.1:c.315_316insA | ENSP00000428416.1:p.Gly106ArgfsTer7 | |
| NM_000015.2:c.705_706insA | NP_000006.2:p.Gly236ArgfsTer7 | |
| XM_011544358.1:c.705_706insA | XP_011542660.1:p.Gly236ArgfsTer7 | |
| XM_017012938.1:c.705_706insA | XP_016868427.1:p.Gly236ArgfsTer7 | |
| NM_000015.3:c.705_706insA MANE Select | NP_000006.2:p.Gly236ArgfsTer7 |