Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022264_5022265delinsTC , CM000679.2:g.5022264_5022265delinsTC | GRCh38 |
| NC_000017.10:g.4925559_4925560delinsTC , CM000679.1:g.4925559_4925560delinsTC | GRCh37 |
| NC_000017.9:g.4866283_4866284delinsTC | NCBI36 |
| NG_034137.1:g.29317_29318delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2183_2184delinsTC MANE Select | ENSP00000320821.5:p.Ile728= | |
| ENST00000320785.9:c.2183_2184delinsTC | ENSP00000320821.5:p.Ile728= | |
| ENST00000573815.1:n.725_726delinsTC | ||
| NM_006612.5:c.2183_2184delinsTC | NP_006603.2:p.Ile728= | |
| XM_005256424.1:c.2183_2184delinsTC | XP_005256481.1:p.Ile728= | |
| XM_005256424.2:c.2183_2184delinsTC | XP_005256481.1:p.Ile728= | |
| NM_006612.6:c.2183_2184delinsTC MANE Select | NP_006603.2:p.Ile728= |