Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225661_5225662delinsCA , CM000673.2:g.5225661_5225662delinsCA | GRCh38 |
| NC_000011.9:g.5246891_5246892delinsCA , CM000673.1:g.5246891_5246892delinsCA | GRCh37 |
| NC_000011.8:g.5203467_5203468delinsCA | NCBI36 |
| NG_000007.3:g.71954_71955delinsTG | |
| NG_059281.1:g.6410_6411delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.380_381delinsTG | ENSP00000494175.1:p.Val127= | |
| ENST00000335295.4:c.380_381delinsTG MANE Select | ENSP00000333994.3:p.Val127= | |
| ENST00000475226.1:n.312_313delinsTG | ||
| ENST00000633227.1:c.*196_*197delinsTG | ENSP00000488004.1:n.*196_*197delinsTG | |
| NM_000518.4:c.380_381delinsTG | NP_000509.1:p.Val127= | |
| NM_000518.5:c.380_381delinsTG MANE Select | NP_000509.1:p.Val127= |