Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785150_18785152del , CM000681.2:g.18785150_18785152del | GRCh38 |
| NC_000019.9:g.18895960_18895962del , CM000681.1:g.18895960_18895962del | GRCh37 |
| NC_000019.8:g.18756960_18756962del | NCBI36 |
| NG_007070.1:g.11153_11155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1718-60_1718-58del MANE Select | ENSP00000222271.2:n.1718-60_1718-58del | |
| ENST00000222271.6:c.1718-60_1718-58del | ENSP00000222271.2:n.1718-60_1718-58del | |
| ENST00000425807.1:c.1559-60_1559-58del | ENSP00000403792.1:n.1559-60_1559-58del | |
| ENST00000542601.6:c.1619-60_1619-58del | ENSP00000439156.2:n.1619-60_1619-58del | |
| NM_000095.2:c.1718-60_1718-58del | NP_000086.2:n.1718-60_1718-58del | |
| NM_000095.3:c.1718-60_1718-58del MANE Select | NP_000086.2:n.1718-60_1718-58del |