Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532101_129532102delinsAT , CM000665.2:g.129532101_129532102delinsAT | GRCh38 |
| NC_000003.11:g.129250944_129250945delinsAT , CM000665.1:g.129250944_129250945delinsAT | GRCh37 |
| NC_000003.10:g.130733634_130733635delinsAT | NCBI36 |
| NG_009115.1:g.8463_8464delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.531-150_531-149delinsAT MANE Select | ENSP00000296271.3:n.531-150_531-149delinsAT | |
| ENST00000296271.3:c.531-150_531-149delinsAT | ENSP00000296271.3:n.531-150_531-149delinsAT | |
| NM_000539.3:c.531-150_531-149delinsAT MANE Select | NP_000530.1:n.531-150_531-149delinsAT |