Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675406_215675407del , CM000663.2:g.215675406_215675407del | GRCh38 |
| NC_000001.10:g.215848748_215848749del , CM000663.1:g.215848748_215848749del | GRCh37 |
| NC_000001.9:g.213915371_213915372del | NCBI36 |
| NG_009497.1:g.752991_752992del | |
| NG_009497.2:g.753043_753044del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12505_12506del MANE Select | ENSP00000305941.3:p.Thr4169GlnfsTer3 | |
| ENST00000674083.1:c.12505_12506del | ENSP00000501296.1:p.Thr4169GlnfsTer3 | |
| ENST00000307340.7:c.12505_12506del | ENSP00000305941.3:p.Thr4169GlnfsTer3 | |
| NM_206933.2:c.12505_12506del | NP_996816.2:p.Thr4169GlnfsTer3 | |
| NM_206933.3:c.12505_12506del | NP_996816.2:p.Thr4169GlnfsTer3 | |
| NM_206933.4:c.12505_12506del MANE Select | NP_996816.3:p.Thr4169GlnfsTer3 |