Linked Data
gnomAD v4:
19-18785104-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785109_18785110del , CM000681.2:g.18785109_18785110del | GRCh38 |
| NC_000019.9:g.18895919_18895920del , CM000681.1:g.18895919_18895920del | GRCh37 |
| NC_000019.8:g.18756919_18756920del | NCBI36 |
| NG_007070.1:g.11199_11200del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1718-14_1718-13del MANE Select | ENSP00000222271.2:n.1718-14_1718-13del | |
| ENST00000222271.6:c.1718-14_1718-13del | ENSP00000222271.2:n.1718-14_1718-13del | |
| ENST00000425807.1:c.1559-14_1559-13del | ENSP00000403792.1:n.1559-14_1559-13del | |
| ENST00000542601.6:c.1619-14_1619-13del | ENSP00000439156.2:n.1619-14_1619-13del | |
| NM_000095.2:c.1718-14_1718-13del | NP_000086.2:n.1718-14_1718-13del | |
| NM_000095.3:c.1718-14_1718-13del MANE Select | NP_000086.2:n.1718-14_1718-13del |