Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436696_67436697insCTACAT , CM000678.2:g.67436696_67436697insCTACAT | GRCh38 |
| NC_000016.9:g.67470599_67470600insCTACAT , CM000678.1:g.67470599_67470600insCTACAT | GRCh37 |
| NC_000016.8:g.66028100_66028101insCTACAT | NCBI36 |
| NG_011482.1:g.49490_49491insATGTAG | |
| NG_016549.1:g.10564_10565insCTACAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.911_912insCTACAT MANE Select | ENSP00000316786.5:p.His304_Gly305insTyrIle | |
| ENST00000326152.5:c.911_912insCTACAT | ENSP00000316786.5:p.His304_Gly305insTyrIle | |
| NM_000196.3:c.911_912insCTACAT | NP_000187.3:p.His304_Gly305insTyrIle | |
| NM_000196.4:c.911_912insCTACAT MANE Select | NP_000187.3:p.His304_Gly305insTyrIle |