Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225656_5225659delinsGCCT , CM000673.2:g.5225656_5225659delinsGCCT | GRCh38 |
| NC_000011.9:g.5246886_5246889delinsGCCT , CM000673.1:g.5246886_5246889delinsGCCT | GRCh37 |
| NC_000011.8:g.5203462_5203465delinsGCCT | NCBI36 |
| NG_000007.3:g.71957_71960delinsAGGC | |
| NG_059281.1:g.6413_6416delinsAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.383_386delinsAGGC | ENSP00000494175.1:p.Gln128= | |
| ENST00000335295.4:c.383_386delinsAGGC MANE Select | ENSP00000333994.3:p.Gln128= | |
| ENST00000475226.1:n.315_318delinsAGGC | ||
| ENST00000633227.1:c.*199_*202delinsAGGC | ENSP00000488004.1:n.*199_*202delinsAGGC | |
| NM_000518.4:c.383_386delinsAGGC | NP_000509.1:p.Gln128= | |
| NM_000518.5:c.383_386delinsAGGC MANE Select | NP_000509.1:p.Gln128= |