Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226659_5226660delinsTG , CM000673.2:g.5226659_5226660delinsTG | GRCh38 |
| NC_000011.9:g.5247889_5247890delinsTG , CM000673.1:g.5247889_5247890delinsTG | GRCh37 |
| NC_000011.8:g.5204465_5204466delinsTG | NCBI36 |
| NG_000007.3:g.70956_70957delinsCA | |
| NG_059281.1:g.5412_5413delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.232_233delinsCA | ENSP00000494175.1:p.His78= | |
| ENST00000335295.4:c.232_233delinsCA MANE Select | ENSP00000333994.3:p.His78= | |
| ENST00000380315.2:c.232_233delinsCA | ENSP00000369671.2:p.His78= | |
| ENST00000475226.1:n.164_165delinsCA | ||
| ENST00000485743.1:n.283_284delinsCA | ||
| ENST00000633227.1:c.*48_*49delinsCA | ENSP00000488004.1:n.*48_*49delinsCA | |
| NM_000518.4:c.232_233delinsCA | NP_000509.1:p.His78= | |
| NM_000518.5:c.232_233delinsCA MANE Select | NP_000509.1:p.His78= |