Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118607_44118608delinsTT , CM000682.2:g.44118607_44118608delinsTT | GRCh38 |
| NC_000020.10:g.42747247_42747248delinsTT , CM000682.1:g.42747247_42747248delinsTT | GRCh37 |
| NC_000020.9:g.42180661_42180662delinsTT | NCBI36 |
| NG_031867.1:g.73971_73972delinsAA , LRG_394:g.73971_73972delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1185_1186delinsAA MANE Select | ENSP00000362071.3:p.Ala396Thr | |
| ENST00000372980.3:c.1185_1186delinsAA | ENSP00000362071.3:p.Ala396Thr | |
| NM_020433.4:c.1185_1186delinsAA , LRG_394t1:c.1185_1186delinsAA | NP_065166.2:p.Ala396Thr | |
| XM_006723832.2:c.1185_1186delinsAA | XP_006723895.1:p.Ala396Thr | |
| NM_020433.5:c.1185_1186delinsAA MANE Select | NP_065166.2:p.Ala396Thr |