Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251839_2251840insTG , CM000681.2:g.2251839_2251840insTG | GRCh38 |
| NC_000019.9:g.2251838_2251839insTG , CM000681.1:g.2251838_2251839insTG | GRCh37 |
| NC_000019.8:g.2202838_2202839insTG | NCBI36 |
| NG_012190.1:g.7726_7727insTG | |
| NG_032853.1:g.9585_9586insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1565_1566insTG MANE Select | ENSP00000221496.2:p.Pro523AlafsTer? | |
| ENST00000221496.4:c.1565_1566insTG | ENSP00000221496.2:p.Pro523AlafsTer? | |
| NM_000479.3:c.1565_1566insTG | NP_000470.2:p.Pro523AlafsTer? | |
| NM_000479.4:c.1565_1566insTG | NP_000470.2:p.Pro523AlafsTer? | |
| NM_000479.5:c.1565_1566insTG MANE Select | NP_000470.3:p.Pro523AlafsTer? |