Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144747_185144748delinsAC , CM000666.2:g.185144747_185144748delinsAC | GRCh38 |
| NC_000004.11:g.186065901_186065902delinsAC , CM000666.1:g.186065901_186065902delinsAC | GRCh37 |
| NC_000004.10:g.186302895_186302896delinsAC | NCBI36 |
| NG_013001.1:g.6485_6486delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.112-17_112-16delinsAC MANE Select | ENSP00000281456.5:n.112-17_112-16delinsAC | |
| ENST00000281456.10:c.112-17_112-16delinsAC | ENSP00000281456.5:n.112-17_112-16delinsAC | |
| ENST00000491736.1:c.112-17_112-16delinsAC | ENSP00000476711.1:n.112-17_112-16delinsAC | |
| NM_001151.3:c.112-17_112-16delinsAC | NP_001142.2:n.112-17_112-16delinsAC | |
| NM_001151.4:c.112-17_112-16delinsAC MANE Select | NP_001142.2:n.112-17_112-16delinsAC |