Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045699_48045700delinsAC , CM000675.2:g.48045699_48045700delinsAC | GRCh38 |
| NC_000013.10:g.48619835_48619836delinsAC , CM000675.1:g.48619835_48619836delinsAC | GRCh37 |
| NC_000013.9:g.47517836_47517837delinsAC | NCBI36 |
| NG_047021.1:g.13133_13134delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.395_396delinsAC MANE Select | ENSP00000258662.1:p.Asp132= | |
| ENST00000258662.2:c.395_396delinsAC | ENSP00000258662.1:p.Asp132= | |
| NM_018283.2:c.395_396delinsAC | NP_060753.1:p.Asp132= | |
| NM_018283.3:c.395_396delinsAC | NP_060753.1:p.Asp132= | |
| NR_136687.1:n.575_576delinsAC | ||
| NR_136688.1:n.575_576delinsAC | ||
| NM_018283.4:c.395_396delinsAC MANE Select | NP_060753.1:p.Asp132= | |
| NR_136687.2:n.416_417delinsAC | ||
| NR_136688.2:n.416_417delinsAC |