Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965902_37965903insTA , CM000670.2:g.37965902_37965903insTA | GRCh38 |
| NC_000008.10:g.37823420_37823421insTA , CM000670.1:g.37823420_37823421insTA | GRCh37 |
| NC_000008.9:g.37942577_37942578insTA | NCBI36 |
| NG_011936.1:g.5764_5765insTA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.567_568insTA MANE Select | NP_000016.1:p.His190TyrfsTer? |
| ENST00000345060.5:c.567_568insTA MANE Select | ENSP00000343782.3:p.His190TyrfsTer? |
| NM_000025.2:c.567_568insTA | NP_000016.1:p.His190TyrfsTer? |
| ENST00000345060.4:c.567_568insTA | ENSP00000343782.3:p.His190TyrfsTer? |
| ENST00000520341.2:n.695_696insTA | |
| ENST00000614635.1:c.567_568insTA | ENSP00000480325.1:p.His190TyrfsTer? |
| ENST00000647937.1:c.51_52insTA | ENSP00000497740.1:p.His18TyrfsTer? |