Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226627_5226630delinsGTGT , CM000673.2:g.5226627_5226630delinsGTGT | GRCh38 |
| NC_000011.9:g.5247857_5247860delinsGTGT , CM000673.1:g.5247857_5247860delinsGTGT | GRCh37 |
| NC_000011.8:g.5204433_5204436delinsGTGT | NCBI36 |
| NG_000007.3:g.70986_70989delinsACAC | |
| NG_059281.1:g.5442_5445delinsACAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.262_265delinsACAC | ENSP00000494175.1:p.Thr88= | |
| ENST00000335295.4:c.262_265delinsACAC MANE Select | ENSP00000333994.3:p.Thr88= | |
| ENST00000380315.2:c.262_265delinsACAC | ENSP00000369671.2:p.Thr88= | |
| ENST00000475226.1:n.194_197delinsACAC | ||
| ENST00000485743.1:n.313_316delinsACAC | ||
| ENST00000633227.1:c.*78_*81delinsACAC | ENSP00000488004.1:n.*78_*81delinsACAC | |
| NM_000518.4:c.262_265delinsACAC | NP_000509.1:p.Thr88= | |
| NM_000518.5:c.262_265delinsACAC MANE Select | NP_000509.1:p.Thr88= |