Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673676_10673679delinsAAAC , CM000682.2:g.10673676_10673679delinsAAAC | GRCh38 |
| NC_000020.10:g.10654324_10654327delinsAAAC , CM000682.1:g.10654324_10654327delinsAAAC | GRCh37 |
| NC_000020.9:g.10602324_10602327delinsAAAC | NCBI36 |
| NG_007496.1:g.5368_5371delinsGTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-149_-146delinsGTTT MANE Select | ENSP00000254958.4:n.-149_-146delinsGTTT | |
| ENST00000254958.9:c.-149_-146delinsGTTT | ENSP00000254958.4:n.-149_-146delinsGTTT | |
| NM_000214.2:c.-149_-146delinsGTTT | NP_000205.1:n.-149_-146delinsGTTT | |
| NM_000214.3:c.-149_-146delinsGTTT MANE Select | NP_000205.1:n.-149_-146delinsGTTT |