Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949780_43949782delinsCCA , CM000685.2:g.43949780_43949782delinsCCA | GRCh38 |
| NC_000023.10:g.43809026_43809028delinsCCA , CM000685.1:g.43809026_43809028delinsCCA | GRCh37 |
| NC_000023.9:g.43693970_43693972delinsCCA | NCBI36 |
| NG_009832.1:g.28894_28896delinsTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.*17_*19delinsTGG (NDP) MANE Select | ENSP00000495972.1:n.*17_*19delinsTGG | |
| ENST00000647044.1:c.*17_*19delinsTGG (NDP) | ENSP00000495811.1:n.*17_*19delinsTGG | |
| ENST00000378062.5:c.*17_*19delinsTGG (NDP) | ENSP00000367301.5:n.*17_*19delinsTGG | |
| ENST00000470584.1:n.463_465delinsTGG (NDP) | ||
| NM_000266.3:c.*17_*19delinsTGG (NDP) | NP_000257.1:n.*17_*19delinsTGG | |
| NR_046631.1:n.49_51delinsCCA (NDP-AS1) | ||
| NM_000266.4:c.*17_*19delinsTGG (NDP) MANE Select | NP_000257.1:n.*17_*19delinsTGG |