Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739795_86739796insAGT , CM000670.2:g.86739795_86739796insAGT | GRCh38 |
| NC_000008.10:g.87752023_87752024insAGT , CM000670.1:g.87752023_87752024insAGT | GRCh37 |
| NC_000008.9:g.87821139_87821140insAGT | NCBI36 |
| NG_016980.1:g.8880_8881insACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-60_130-59insACT MANE Select | ENSP00000316605.5:n.130-60_130-59insACT | |
| ENST00000681746.1:c.130-60_130-59insACT | ENSP00000505959.1:n.130-60_130-59insACT | |
| ENST00000320005.5:c.130-60_130-59insACT | ENSP00000316605.5:n.130-60_130-59insACT | |
| ENST00000519777.1:n.112-60_112-59insACT | ||
| NM_019098.4:c.130-60_130-59insACT | NP_061971.3:n.130-60_130-59insACT | |
| NM_019098.5:c.130-60_130-59insACT MANE Select | NP_061971.3:n.130-60_130-59insACT |