Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044178_5044180delinsGGC , CM000674.2:g.5044178_5044180delinsGGC | GRCh38 |
| NC_000012.11:g.5153344_5153346delinsGGC , CM000674.1:g.5153344_5153346delinsGGC | GRCh37 |
| NC_000012.10:g.5023605_5023607delinsGGC | NCBI36 |
| NG_012198.1:g.5260_5262delinsGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.31_33delinsGGC MANE Select | ENSP00000252321.3:p.Gly11= | |
| ENST00000252321.4:c.31_33delinsGGC | ENSP00000252321.3:p.Gly11= | |
| NM_002234.3:c.31_33delinsGGC | NP_002225.2:p.Gly11= | |
| NM_002234.4:c.31_33delinsGGC MANE Select | NP_002225.2:p.Gly11= |