Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGG | GRCh38 |
| NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGG | GRCh37 |
| NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGG | NCBI36 |
| NG_015885.1:g.35912_35913insGCCCTGCCCCTCCCGGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC MANE Select | ENSP00000270349.9:n.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC | |
| ENST00000270349.11:c.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC | ENSP00000270349.9:n.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC | |
| NM_001044.4:c.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC | NP_001035.1:n.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC | |
| NM_001044.5:c.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC MANE Select | NP_001035.1:n.1156+174_1156+175insGCCCTGCCCCTCCCGGCCC |