Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043597_94043598insGTG , CM000663.2:g.94043597_94043598insGTG | GRCh38 |
| NC_000001.10:g.94509153_94509154insGTG , CM000663.1:g.94509153_94509154insGTG | GRCh37 |
| NC_000001.9:g.94281741_94281742insGTG | NCBI36 |
| NG_009073.1:g.82553_82554insACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3051-122_3051-121insACC MANE Select | ENSP00000359245.3:n.3051-122_3051-121insACC | |
| ENST00000370225.3:c.3051-122_3051-121insACC | ENSP00000359245.3:n.3051-122_3051-121insACC | |
| ENST00000536513.5:c.-64-3508_-64-3507insACC | ENSP00000439707.2:n.-64-3508_-64-3507insACC | |
| NM_000350.2:c.3051-122_3051-121insACC | NP_000341.2:n.3051-122_3051-121insACC | |
| NM_000350.3:c.3051-122_3051-121insACC MANE Select | NP_000341.2:n.3051-122_3051-121insACC |