Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404454_42404455delinsAC , CM000679.2:g.42404454_42404455delinsAC | GRCh38 |
| NC_000017.10:g.40556472_40556473delinsAC , CM000679.1:g.40556472_40556473delinsAC | GRCh37 |
| NC_000017.9:g.37809998_37809999delinsAC | NCBI36 |
| NG_015845.1:g.23866_23867delinsGT | |
| NG_015845.2:g.23866_23867delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*232_*233delinsGT MANE Select | ENSP00000349541.4:n.*232_*233delinsGT | |
| ENST00000357037.5:c.*232_*233delinsGT | ENSP00000349541.4:n.*232_*233delinsGT | |
| NM_012232.5:c.*232_*233delinsGT | NP_036364.2:n.*232_*233delinsGT | |
| NM_012232.6:c.*232_*233delinsGT MANE Select | NP_036364.2:n.*232_*233delinsGT |