Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417092_23417093insA , CM000678.2:g.23417092_23417093insA | GRCh38 |
| NC_000016.9:g.23428413_23428414insA , CM000678.1:g.23428413_23428414insA | GRCh37 |
| NC_000016.8:g.23335914_23335915insA | NCBI36 |
| NG_021287.1:g.41099_41100insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.9:c.1166_1167insT | ENSP00000305442.5:p.Gln389HisfsTer19 | |
| NM_153603.3:c.1166_1167insT | NP_705831.1:p.Gln389HisfsTer19 | |
| XM_017023870.1:c.971_972insT | XP_016879359.1:p.Gln324HisfsTer19 | |
| NM_153603.4:c.1166_1167insT MANE Select | NP_705831.1:p.Gln389HisfsTer19 |