Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966105_37966106insCA , CM000670.2:g.37966105_37966106insCA | GRCh38 |
| NC_000008.10:g.37823623_37823624insCA , CM000670.1:g.37823623_37823624insCA | GRCh37 |
| NC_000008.9:g.37942780_37942781insCA | NCBI36 |
| NG_011936.1:g.5561_5562insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.364_365insTG MANE Select | ENSP00000343782.3:p.Thr122MetfsTer19 | |
| ENST00000520341.2:n.492_493insTG | ||
| ENST00000345060.4:c.364_365insTG | ENSP00000343782.3:p.Thr122MetfsTer19 | |
| ENST00000614635.1:c.364_365insTG | ENSP00000480325.1:p.Thr122MetfsTer19 | |
| NM_000025.2:c.364_365insTG | NP_000016.1:p.Thr122MetfsTer19 | |
| NM_000025.3:c.364_365insTG MANE Select | NP_000016.1:p.Thr122MetfsTer19 |