Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429913_68429914insCCCCAAACACACCCA , CM000663.2:g.68429913_68429914insCCCCAAACACACCCA | GRCh38 |
| NC_000001.10:g.68895596_68895597insCCCCAAACACACCCA , CM000663.1:g.68895596_68895597insCCCCAAACACACCCA | GRCh37 |
| NC_000001.9:g.68668184_68668185insCCCCAAACACACCCA | NCBI36 |
| NG_008472.1:g.25046_25047insTGGGTGTGTTTGGGG | |
| NG_008472.2:g.25046_25047insTGGGTGTGTTTGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1464_1465insTGGGTGTGTTTGGGG MANE Select | ENSP00000262340.5:p.Ser488_Val489insTrpValCysLeuGly | |
| ENST00000262340.5:c.1464_1465insTGGGTGTGTTTGGGG | ENSP00000262340.5:p.Ser488_Val489insTrpValCysLeuGly | |
| NM_000329.2:c.1464_1465insTGGGTGTGTTTGGGG | NP_000320.1:p.Ser488_Val489insTrpValCysLeuGly | |
| XM_017002027.1:c.1188_1189insTGGGTGTGTTTGGGG | XP_016857516.1:p.Ser396_Val397insTrpValCysLeuGly | |
| NM_000329.3:c.1464_1465insTGGGTGTGTTTGGGG MANE Select | NP_000320.1:p.Ser488_Val489insTrpValCysLeuGly |