Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013451_25013452insTTGGGG , CM000685.2:g.25013451_25013452insTTGGGG | GRCh38 |
| NC_000023.10:g.25031568_25031569insTTGGGG , CM000685.1:g.25031568_25031569insTTGGGG | GRCh37 |
| NC_000023.9:g.24941489_24941490insTTGGGG | NCBI36 |
| NG_008281.1:g.7497_7498insCCCCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.543_544insCCCCAA MANE Select | ENSP00000368332.4:p.Pro181_Phe182insProGln | |
| ENST00000379044.4:c.543_544insCCCCAA | ENSP00000368332.4:p.Pro181_Phe182insProGln | |
| NM_139058.2:c.543_544insCCCCAA | NP_620689.1:p.Pro181_Phe182insProGln | |
| NM_139058.3:c.543_544insCCCCAA MANE Select | NP_620689.1:p.Pro181_Phe182insProGln |