Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122472186_122472187delinsCT , CM000672.2:g.122472186_122472187delinsCT | GRCh38 |
| NC_000010.10:g.124231702_124231703delinsCT , CM000672.1:g.124231702_124231703delinsCT | GRCh37 |
| NC_000010.9:g.124221692_124221693delinsCT | NCBI36 |
| NG_011554.1:g.15662_15663delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.472+10062_472+10063delinsCT MANE Select | ENSP00000357980.3:n.472+10062_472+10063delinsCT | |
| ENST00000648167.1:c.154+13477_154+13478delinsCT | ENSP00000498033.1:n.154+13477_154+13478delinsCT | |
| ENST00000368984.7:c.472+10062_472+10063delinsCT | ENSP00000357980.3:n.472+10062_472+10063delinsCT | |
| NM_002775.4:c.472+10062_472+10063delinsCT | NP_002766.1:n.472+10062_472+10063delinsCT | |
| NM_002775.5:c.472+10062_472+10063delinsCT MANE Select | NP_002766.1:n.472+10062_472+10063delinsCT |