Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673527_10673528delinsAA , CM000682.2:g.10673527_10673528delinsAA | GRCh38 |
| NC_000020.10:g.10654175_10654176delinsAA , CM000682.1:g.10654175_10654176delinsAA | GRCh37 |
| NC_000020.9:g.10602175_10602176delinsAA | NCBI36 |
| NG_007496.1:g.5519_5520delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3_4delinsTT MANE Select | ENSP00000254958.4:p.Met1_Arg2delinsIleCys | |
| ENST00000254958.9:c.3_4delinsTT | ENSP00000254958.4:p.Met1_Arg2delinsIleCys | |
| NM_000214.2:c.3_4delinsTT | NP_000205.1:p.Met1_Arg2delinsIleCys | |
| NM_000214.3:c.3_4delinsTT MANE Select | NP_000205.1:p.Met1_Arg2delinsIleCys |