Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429914_68429915insACCAAACACACCCAA , CM000663.2:g.68429914_68429915insACCAAACACACCCAA | GRCh38 |
| NC_000001.10:g.68895597_68895598insACCAAACACACCCAA , CM000663.1:g.68895597_68895598insACCAAACACACCCAA | GRCh37 |
| NC_000001.9:g.68668185_68668186insACCAAACACACCCAA | NCBI36 |
| NG_008472.1:g.25046_25047insTGGGTGTGTTTGGTT | |
| NG_008472.2:g.25046_25047insTGGGTGTGTTTGGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1464_1465insTGGGTGTGTTTGGTT MANE Select | ENSP00000262340.5:p.Ser488_Val489insTrpValCysLeuVal | |
| ENST00000262340.5:c.1464_1465insTGGGTGTGTTTGGTT | ENSP00000262340.5:p.Ser488_Val489insTrpValCysLeuVal | |
| NM_000329.2:c.1464_1465insTGGGTGTGTTTGGTT | NP_000320.1:p.Ser488_Val489insTrpValCysLeuVal | |
| XM_017002027.1:c.1188_1189insTGGGTGTGTTTGGTT | XP_016857516.1:p.Ser396_Val397insTrpValCysLeuVal | |
| NM_000329.3:c.1464_1465insTGGGTGTGTTTGGTT MANE Select | NP_000320.1:p.Ser488_Val489insTrpValCysLeuVal |