Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786107_18786109del , CM000681.2:g.18786107_18786109del | GRCh38 |
| NC_000019.9:g.18896917_18896919del , CM000681.1:g.18896917_18896919del | GRCh37 |
| NC_000019.8:g.18757917_18757919del | NCBI36 |
| NG_007070.1:g.10196_10198del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1345_1347del MANE Select | ENSP00000222271.2:p.Pro449del | |
| ENST00000222271.6:c.1345_1347del | ENSP00000222271.2:p.Pro449del | |
| ENST00000425807.1:c.1186_1188del | ENSP00000403792.1:p.Pro396del | |
| ENST00000542601.6:c.1246_1248del | ENSP00000439156.2:p.Pro416del | |
| NM_000095.2:c.1345_1347del | NP_000086.2:p.Pro449del | |
| NM_000095.3:c.1345_1347del MANE Select | NP_000086.2:p.Pro449del |