Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013530_25013554delinsGGCCGCGGCGGCCGCGGCCGCGGCT , CM000685.2:g.25013530_25013554delinsGGCCGCGGCGGCCGCGGCCGCGGCT | GRCh38 |
| NC_000023.10:g.25031647_25031671delinsGGCCGCGGCGGCCGCGGCCGCGGCT , CM000685.1:g.25031647_25031671delinsGGCCGCGGCGGCCGCGGCCGCGGCT | GRCh37 |
| NC_000023.9:g.24941568_24941592delinsGGCCGCGGCGGCCGCGGCCGCGGCT | NCBI36 |
| NG_008281.1:g.7395_7419delinsAGCCGCGGCCGCGGCCGCCGCGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.441_465delinsAGCCGCGGCCGCGGCCGCCGCGGCC MANE Select | ENSP00000368332.4:p.Ala147= | |
| ENST00000379044.4:c.441_465delinsAGCCGCGGCCGCGGCCGCCGCGGCC | ENSP00000368332.4:p.Ala147= | |
| NM_139058.2:c.441_465delinsAGCCGCGGCCGCGGCCGCCGCGGCC | NP_620689.1:p.Ala147= | |
| NM_139058.3:c.441_465delinsAGCCGCGGCCGCGGCCGCCGCGGCC MANE Select | NP_620689.1:p.Ala147= |