Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340255_146340256insT , CM000667.2:g.146340255_146340256insT | GRCh38 |
| NC_000005.9:g.145719818_145719819insT , CM000667.1:g.145719818_145719819insT | GRCh37 |
| NC_000005.8:g.145700011_145700012insT | NCBI36 |
| NG_011885.1:g.6232_6233insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.828_829insT MANE Select | ENSP00000495718.1:p.Lys277Ter | |
| ENST00000230732.4:c.828_829insT | ENSP00000230732.4:p.Lys277Ter | |
| NM_002700.2:c.828_829insT | NP_002691.1:p.Lys277Ter | |
| NM_002700.3:c.828_829insT MANE Select | NP_002691.1:p.Lys277Ter |