Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966186_37966187insTG , CM000670.2:g.37966186_37966187insTG | GRCh38 |
| NC_000008.10:g.37823704_37823705insTG , CM000670.1:g.37823704_37823705insTG | GRCh37 |
| NC_000008.9:g.37942861_37942862insTG | NCBI36 |
| NG_011936.1:g.5481_5482insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.284_285insAC MANE Select | ENSP00000343782.3:p.Thr96ProfsTer5 | |
| ENST00000520341.2:n.412_413insAC | ||
| ENST00000345060.4:c.284_285insAC | ENSP00000343782.3:p.Thr96ProfsTer5 | |
| ENST00000614635.1:c.284_285insAC | ENSP00000480325.1:p.Thr96ProfsTer5 | |
| NM_000025.2:c.284_285insAC | NP_000016.1:p.Thr96ProfsTer5 | |
| NM_000025.3:c.284_285insAC MANE Select | NP_000016.1:p.Thr96ProfsTer5 |