Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251828_2251829insACG , CM000681.2:g.2251828_2251829insACG | GRCh38 |
| NC_000019.9:g.2251827_2251828insACG , CM000681.1:g.2251827_2251828insACG | GRCh37 |
| NC_000019.8:g.2202827_2202828insACG | NCBI36 |
| NG_012190.1:g.7715_7716insACG | |
| NG_032853.1:g.9595_9596insCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1554_1555insACG MANE Select | ENSP00000221496.2:p.Ala518_Ala519insThr | |
| ENST00000221496.4:c.1554_1555insACG | ENSP00000221496.2:p.Ala518_Ala519insThr | |
| NM_000479.3:c.1554_1555insACG | NP_000470.2:p.Ala518_Ala519insThr | |
| NM_000479.4:c.1554_1555insACG | NP_000470.2:p.Ala518_Ala519insThr | |
| NM_000479.5:c.1554_1555insACG MANE Select | NP_000470.3:p.Ala518_Ala519insThr |