Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013653_25013674delinsGGCCGCTGCCGCCGCCGCCGCC , CM000685.2:g.25013653_25013674delinsGGCCGCTGCCGCCGCCGCCGCC | GRCh38 |
| NC_000023.10:g.25031770_25031791delinsGGCCGCTGCCGCCGCCGCCGCC , CM000685.1:g.25031770_25031791delinsGGCCGCTGCCGCCGCCGCCGCC | GRCh37 |
| NC_000023.9:g.24941691_24941712delinsGGCCGCTGCCGCCGCCGCCGCC | NCBI36 |
| NG_008281.1:g.7275_7296delinsGGCGGCGGCGGCGGCAGCGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.321_342delinsGGCGGCGGCGGCGGCAGCGGCC MANE Select | ENSP00000368332.4:p.Ala107= | |
| ENST00000379044.4:c.321_342delinsGGCGGCGGCGGCGGCAGCGGCC | ENSP00000368332.4:p.Ala107= | |
| NM_139058.2:c.321_342delinsGGCGGCGGCGGCGGCAGCGGCC | NP_620689.1:p.Ala107= | |
| NM_139058.3:c.321_342delinsGGCGGCGGCGGCGGCAGCGGCC MANE Select | NP_620689.1:p.Ala107= |