Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308515_30308516delinsGG , CM000685.2:g.30308515_30308516delinsGG | GRCh38 |
| NC_000023.10:g.30326632_30326633delinsGG , CM000685.1:g.30326632_30326633delinsGG | GRCh37 |
| NC_000023.9:g.30236553_30236554delinsGG | NCBI36 |
| NG_009814.1:g.5863_5864delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.848_849delinsCC MANE Select | ENSP00000368253.4:p.Gln283Pro | |
| ENST00000378970.4:c.848_849delinsCC | ENSP00000368253.4:p.Gln283Pro | |
| NM_000475.4:c.848_849delinsCC | NP_000466.2:p.Gln283Pro | |
| NM_000475.5:c.848_849delinsCC MANE Select | NP_000466.2:p.Gln283Pro |