Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1423705_1423708delinsCTGG , CM000667.2:g.1423705_1423708delinsCTGG | GRCh38 |
| NC_000005.9:g.1423820_1423823delinsCTGG , CM000667.1:g.1423820_1423823delinsCTGG | GRCh37 |
| NC_000005.8:g.1476820_1476823delinsCTGG | NCBI36 |
| NG_015885.1:g.26721_26724delinsCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.654-1694_654-1691delinsCCAG MANE Select | ENSP00000270349.9:n.654-1694_654-1691delinsCCAG | |
| ENST00000270349.11:c.654-1694_654-1691delinsCCAG | ENSP00000270349.9:n.654-1694_654-1691delinsCCAG | |
| NM_001044.4:c.654-1694_654-1691delinsCCAG | NP_001035.1:n.654-1694_654-1691delinsCCAG | |
| NM_001044.5:c.654-1694_654-1691delinsCCAG MANE Select | NP_001035.1:n.654-1694_654-1691delinsCCAG |