Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004048_47004050delinsGGC , CM000681.2:g.47004048_47004050delinsGGC | GRCh38 |
| NC_000019.9:g.47507305_47507307delinsGGC , CM000681.1:g.47507305_47507307delinsGGC | GRCh37 |
| NC_000019.8:g.52199145_52199147delinsGGC | NCBI36 |
| NG_047014.1:g.90482_90484delinsGGC | |
| NG_047014.2:g.148052_148054delinsGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7860_7862delinsGGC | ENSP00000385720.2:n.7860_7862delinsGGC | |
| ENST00000672722.1:c.*3360_*3362delinsGGC MANE Select | ENSP00000500409.1:n.*3360_*3362delinsGGC | |
| ENST00000404338.7:c.7860_7862delinsGGC | ENSP00000385720.2:n.7860_7862delinsGGC | |
| ENST00000614079.1:c.7437_7439delinsGGC | ENSP00000483730.1:n.7437_7439delinsGGC | |
| NM_004491.4:c.7860_7862delinsGGC | NP_004482.4:n.7860_7862delinsGGC | |
| NM_004491.5:c.*3360_*3362delinsGGC MANE Select | NP_004482.4:n.*3360_*3362delinsGGC |