Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787529_18787530insACGCAT , CM000681.2:g.18787529_18787530insACGCAT | GRCh38 |
| NC_000019.9:g.18898338_18898339insACGCAT , CM000681.1:g.18898338_18898339insACGCAT | GRCh37 |
| NC_000019.8:g.18759338_18759339insACGCAT | NCBI36 |
| NG_007070.1:g.8776_8777insATGCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1096_1097insATGCGT MANE Select | ENSP00000222271.2:p.Gly366delinsAspAlaCys | |
| ENST00000222271.6:c.1096_1097insATGCGT | ENSP00000222271.2:p.Gly366delinsAspAlaCys | |
| ENST00000425807.1:c.937_938insATGCGT | ENSP00000403792.1:p.Gly313delinsAspAlaCys | |
| ENST00000542601.6:c.997_998insATGCGT | ENSP00000439156.2:p.Gly333delinsAspAlaCys | |
| NM_000095.2:c.1096_1097insATGCGT | NP_000086.2:p.Gly366delinsAspAlaCys | |
| NM_000095.3:c.1096_1097insATGCGT MANE Select | NP_000086.2:p.Gly366delinsAspAlaCys |