Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213567_1213568delinsGC , CM000667.2:g.1213567_1213568delinsGC | GRCh38 |
| NC_000005.9:g.1213682_1213683delinsGC , CM000667.1:g.1213682_1213683delinsGC | GRCh37 |
| NC_000005.8:g.1266682_1266683delinsGC | NCBI36 |
| NG_008282.1:g.16973_16974delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.768_769delinsGC MANE Select | ENSP00000305302.10:p.Thr256= | |
| ENST00000304460.10:c.768_769delinsGC | ENSP00000305302.10:p.Thr256= | |
| ENST00000515652.5:c.676_677delinsGC | ENSP00000425701.1:p.Ala226= | |
| NM_001003841.2:c.768_769delinsGC | NP_001003841.1:p.Thr256= | |
| NM_001003841.3:c.768_769delinsGC MANE Select | NP_001003841.1:p.Thr256= |