Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226682_5226684delinsACC , CM000673.2:g.5226682_5226684delinsACC | GRCh38 |
| NC_000011.9:g.5247912_5247914delinsACC , CM000673.1:g.5247912_5247914delinsACC | GRCh37 |
| NC_000011.8:g.5204488_5204490delinsACC | NCBI36 |
| NG_000007.3:g.70932_70934delinsGGT | |
| NG_059281.1:g.5388_5390delinsGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.208_210delinsGGT | ENSP00000494175.1:p.Gly70= | |
| ENST00000335295.4:c.208_210delinsGGT MANE Select | ENSP00000333994.3:p.Gly70= | |
| ENST00000380315.2:c.208_210delinsGGT | ENSP00000369671.2:p.Gly70= | |
| ENST00000475226.1:n.140_142delinsGGT | ||
| ENST00000485743.1:n.259_261delinsGGT | ||
| ENST00000633227.1:c.*24_*26delinsGGT | ENSP00000488004.1:n.*24_*26delinsGGT | |
| NM_000518.4:c.208_210delinsGGT | NP_000509.1:p.Gly70= | |
| NM_000518.5:c.208_210delinsGGT MANE Select | NP_000509.1:p.Gly70= |