Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709465_114709466delinsGA , CM000663.2:g.114709465_114709466delinsGA | GRCh38 |
| NC_000001.10:g.115252086_115252087delinsGA , CM000663.1:g.115252086_115252087delinsGA | GRCh37 |
| NC_000001.9:g.115053609_115053610delinsGA | NCBI36 |
| NG_007572.1:g.12429_12430delinsTC , LRG_92:g.12429_12430delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.450+103_450+104delinsTC MANE Select | ENSP00000358548.4:n.450+103_450+104delinsTC | |
| ENST00000369535.4:c.450+103_450+104delinsTC | ENSP00000358548.4:n.450+103_450+104delinsTC | |
| NM_002524.4:c.450+103_450+104delinsTC | NP_002515.1:n.450+103_450+104delinsTC | |
| NM_002524.5:c.450+103_450+104delinsTC MANE Select | NP_002515.1:n.450+103_450+104delinsTC |