Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670900_81670907delinsCCCATTTT , CM000665.2:g.81670900_81670907delinsCCCATTTT | GRCh38 |
| NC_000003.11:g.81720051_81720058delinsCCCATTTT , CM000665.1:g.81720051_81720058delinsCCCATTTT | GRCh37 |
| NC_000003.10:g.81802741_81802748delinsCCCATTTT | NCBI36 |
| NG_011810.1:g.95894_95901delinsAAAATGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.360_367delinsAAAATGGG MANE Select | ENSP00000410833.2:p.Gly120= | |
| ENST00000429644.6:c.360_367delinsAAAATGGG | ENSP00000410833.2:p.Gly120= | |
| ENST00000477426.1:n.76_83delinsAAAATGGG | ||
| ENST00000489715.1:c.237_244delinsAAAATGGG | ENSP00000419638.1:p.Gly79= | |
| NM_000158.3:c.360_367delinsAAAATGGG | NP_000149.3:p.Gly120= | |
| NM_000158.4:c.360_367delinsAAAATGGG MANE Select | NP_000149.4:p.Gly120= |