Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251815_2251816insC , CM000681.2:g.2251815_2251816insC | GRCh38 |
| NC_000019.9:g.2251814_2251815insC , CM000681.1:g.2251814_2251815insC | GRCh37 |
| NC_000019.8:g.2202814_2202815insC | NCBI36 |
| NG_012190.1:g.7702_7703insC | |
| NG_032853.1:g.9608_9609insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1541_1542insC MANE Select | ENSP00000221496.2:p.Gln514HisfsTer? | |
| ENST00000221496.4:c.1541_1542insC | ENSP00000221496.2:p.Gln514HisfsTer? | |
| NM_000479.3:c.1541_1542insC | NP_000470.2:p.Gln514HisfsTer? | |
| NM_000479.4:c.1541_1542insC | NP_000470.2:p.Gln514HisfsTer? | |
| NM_000479.5:c.1541_1542insC MANE Select | NP_000470.3:p.Gln514HisfsTer? |