Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004636_25004638delinsGGC , CM000685.2:g.25004636_25004638delinsGGC | GRCh38 |
| NC_000023.10:g.25022753_25022755delinsGGC , CM000685.1:g.25022753_25022755delinsGGC | GRCh37 |
| NC_000023.9:g.24932674_24932676delinsGGC | NCBI36 |
| NG_008281.1:g.16311_16313delinsGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.*32_*34delinsGCC MANE Select | ENSP00000368332.4:n.*32_*34delinsGCC | |
| ENST00000379044.4:c.*32_*34delinsGCC | ENSP00000368332.4:n.*32_*34delinsGCC | |
| NM_139058.2:c.*32_*34delinsGCC | NP_620689.1:n.*32_*34delinsGCC | |
| NM_139058.3:c.*32_*34delinsGCC MANE Select | NP_620689.1:n.*32_*34delinsGCC |