Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055524_91055534delinsCCCTCATCTGA , CM000674.2:g.91055524_91055534delinsCCCTCATCTGA | GRCh38 |
| NC_000012.11:g.91449301_91449311delinsCCCTCATCTGA , CM000674.1:g.91449301_91449311delinsCCCTCATCTGA | GRCh37 |
| NC_000012.10:g.89973432_89973442delinsCCCTCATCTGA | NCBI36 |
| NG_021223.1:g.7821_7831delinsTCAGATGAGGG , LRG_538:g.7821_7831delinsTCAGATGAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.748_758delinsTCAGATGAGGG MANE Select | ENSP00000266719.3:p.Ser250= | |
| ENST00000266719.3:c.748_758delinsTCAGATGAGGG | ENSP00000266719.3:p.Ser250= | |
| NM_007035.3:c.748_758delinsTCAGATGAGGG , LRG_538t1:c.748_758delinsTCAGATGAGGG | NP_008966.1:p.Ser250= | |
| XM_011537781.1:c.748_758delinsTCAGATGAGGG | XP_011536083.1:p.Ser250= | |
| NM_007035.4:c.748_758delinsTCAGATGAGGG MANE Select | NP_008966.1:p.Ser250= |