Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225713_5225714delinsAC , CM000673.2:g.5225713_5225714delinsAC | GRCh38 |
| NC_000011.9:g.5246943_5246944delinsAC , CM000673.1:g.5246943_5246944delinsAC | GRCh37 |
| NC_000011.8:g.5203519_5203520delinsAC | NCBI36 |
| NG_000007.3:g.71902_71903delinsGT | |
| NG_059281.1:g.6358_6359delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.328_329delinsGT | ENSP00000494175.1:p.Val110= | |
| ENST00000335295.4:c.328_329delinsGT MANE Select | ENSP00000333994.3:p.Val110= | |
| ENST00000475226.1:n.260_261delinsGT | ||
| ENST00000633227.1:c.*144_*145delinsGT | ENSP00000488004.1:n.*144_*145delinsGT | |
| NM_000518.4:c.328_329delinsGT | NP_000509.1:p.Val110= | |
| NM_000518.5:c.328_329delinsGT MANE Select | NP_000509.1:p.Val110= |