Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196527_73196528delinsGA , CM000679.2:g.73196527_73196528delinsGA | GRCh38 |
| NC_000017.10:g.71192666_71192667delinsGA , CM000679.1:g.71192666_71192667delinsGA | GRCh37 |
| NC_000017.9:g.68704261_68704262delinsGA | NCBI36 |
| NG_008971.1:g.8494_8495delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.336_337delinsGA MANE Select | ENSP00000299886.4:p.Glu112= | |
| ENST00000299886.8:c.336_337delinsGA | ENSP00000299886.4:p.Glu112= | |
| ENST00000438720.7:c.334_335delinsGA | ||
| ENST00000582587.2:c.333_334delinsGA | ||
| ENST00000618996.4:c.336_337delinsGA | ENSP00000479450.1:p.Glu112= | |
| NM_018714.2:c.336_337delinsGA | NP_061184.1:p.Glu112= | |
| NM_018714.3:c.336_337delinsGA MANE Select | NP_061184.1:p.Glu112= |