Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013536_25013557delinsGGCGGCCGCGGCCGCGGCTGCC , CM000685.2:g.25013536_25013557delinsGGCGGCCGCGGCCGCGGCTGCC | GRCh38 |
| NC_000023.10:g.25031653_25031674delinsGGCGGCCGCGGCCGCGGCTGCC , CM000685.1:g.25031653_25031674delinsGGCGGCCGCGGCCGCGGCTGCC | GRCh37 |
| NC_000023.9:g.24941574_24941595delinsGGCGGCCGCGGCCGCGGCTGCC | NCBI36 |
| NG_008281.1:g.7392_7413delinsGGCAGCCGCGGCCGCGGCCGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC MANE Select | ENSP00000368332.4:p.Ala146= | |
| ENST00000379044.4:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC | ENSP00000368332.4:p.Ala146= | |
| NM_139058.2:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC | NP_620689.1:p.Ala146= | |
| NM_139058.3:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC MANE Select | NP_620689.1:p.Ala146= |