Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414469_1414470insGGTGGGGGGCCC , CM000667.2:g.1414469_1414470insGGTGGGGGGCCC | GRCh38 |
| NC_000005.9:g.1414584_1414585insGGTGGGGGGCCC , CM000667.1:g.1414584_1414585insGGTGGGGGGCCC | GRCh37 |
| NC_000005.8:g.1467584_1467585insGGTGGGGGGCCC | NCBI36 |
| NG_015885.1:g.35959_35960insGGGCCCCCCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+221_1156+222insGGGCCCCCCACC MANE Select | ENSP00000270349.9:n.1156+221_1156+222insGGGCCCCCCACC | |
| ENST00000270349.11:c.1156+221_1156+222insGGGCCCCCCACC | ENSP00000270349.9:n.1156+221_1156+222insGGGCCCCCCACC | |
| NM_001044.4:c.1156+221_1156+222insGGGCCCCCCACC | NP_001035.1:n.1156+221_1156+222insGGGCCCCCCACC | |
| NM_001044.5:c.1156+221_1156+222insGGGCCCCCCACC MANE Select | NP_001035.1:n.1156+221_1156+222insGGGCCCCCCACC |