Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612378_41612390delinsCCACCAAAGCCAG , CM000679.2:g.41612378_41612390delinsCCACCAAAGCCAG | GRCh38 |
| NC_000017.10:g.39768630_39768642delinsCCACCAAAGCCAG , CM000679.1:g.39768630_39768642delinsCCACCAAAGCCAG | GRCh37 |
| NC_000017.9:g.37022156_37022168delinsCCACCAAAGCCAG | NCBI36 |
| NG_008301.1:g.5438_5450delinsCTGGCTTTGGTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.299_311delinsCTGGCTTTGGTGG MANE Select | ENSP00000301653.3:p.Ala100= | |
| ENST00000301653.8:c.299_311delinsCTGGCTTTGGTGG | ENSP00000301653.3:p.Ala100= | |
| ENST00000588319.1:n.376_388delinsCTGGCTTTGGTGG | ||
| ENST00000593067.1:c.-312-104_-312-92delinsCTGGCTTTGGTGG | ENSP00000467124.1:n.-312-104_-312-92delinsCTGGCTTTGGTGG | |
| NM_005557.3:c.299_311delinsCTGGCTTTGGTGG | NP_005548.2:p.Ala100= | |
| NM_005557.4:c.299_311delinsCTGGCTTTGGTGG MANE Select | NP_005548.2:p.Ala100= |