Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675316_215675317insA , CM000663.2:g.215675316_215675317insA | GRCh38 |
| NC_000001.10:g.215848658_215848659insA , CM000663.1:g.215848658_215848659insA | GRCh37 |
| NC_000001.9:g.213915281_213915282insA | NCBI36 |
| NG_009497.1:g.753080_753081insT | |
| NG_009497.2:g.753132_753133insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12594_12595insT MANE Select | ENSP00000305941.3:p.Ala4199CysfsTer19 | |
| ENST00000674083.1:c.12594_12595insT | ENSP00000501296.1:p.Ala4199CysfsTer19 | |
| ENST00000307340.7:c.12594_12595insT | ENSP00000305941.3:p.Ala4199CysfsTer19 | |
| NM_206933.2:c.12594_12595insT | NP_996816.2:p.Ala4199CysfsTer19 | |
| NM_206933.3:c.12594_12595insT | NP_996816.2:p.Ala4199CysfsTer19 | |
| NM_206933.4:c.12594_12595insT MANE Select | NP_996816.3:p.Ala4199CysfsTer19 |