Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29062319_29062329delinsCTGGCACACGT , CM000664.2:g.29062319_29062329delinsCTGGCACACGT | GRCh38 |
| NC_000002.11:g.29285185_29285195delinsCTGGCACACGT , CM000664.1:g.29285185_29285195delinsCTGGCACACGT | GRCh37 |
| NC_000002.10:g.29138689_29138699delinsCTGGCACACGT | NCBI36 |
| NG_021427.1:g.16933_16943delinsACGTGTGCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.*2540_*2550delinsACGTGTGCCAG MANE Select | ENSP00000332809.4:n.*2540_*2550delinsACGTGTGCCAG | |
| ENST00000331664.5:c.6407_6417delinsACGTGTGCCAG | ENSP00000332809.4:n.6407_6417delinsACGTGTGCCAG | |
| NM_001029883.2:c.6407_6417delinsACGTGTGCCAG | NP_001025054.1:n.6407_6417delinsACGTGTGCCAG | |
| XM_011532826.1:c.*382-674_*382-664delinsACGTGTGCCAG | XP_011531128.1:n.*382-674_*382-664delinsACGTGTGCCAG | |
| NM_001029883.3:c.*2540_*2550delinsACGTGTGCCAG MANE Select | NP_001025054.1:n.*2540_*2550delinsACGTGTGCCAG |