Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371474_60371477delinsCATG , CM000680.2:g.60371474_60371477delinsCATG | GRCh38 |
| NC_000018.9:g.58038707_58038710delinsCATG , CM000680.1:g.58038707_58038710delinsCATG | GRCh37 |
| NC_000018.8:g.56189687_56189690delinsCATG | NCBI36 |
| NG_016441.1:g.6292_6295delinsCATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.873_876delinsCATG MANE Select | ENSP00000299766.3:p.Ile291= | |
| ENST00000299766.4:c.873_876delinsCATG | ENSP00000299766.3:p.Ile291= | |
| NM_005912.2:c.873_876delinsCATG | NP_005903.2:p.Ile291= | |
| NM_005912.3:c.873_876delinsCATG MANE Select | NP_005903.2:p.Ile291= |