Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755299_43755324delinsCAGGGCCGGGGCGCCCGCCGGTGGGG , CM000679.2:g.43755299_43755324delinsCAGGGCCGGGGCGCCCGCCGGTGGGG | GRCh38 |
| NC_000017.10:g.41832667_41832692delinsCAGGGCCGGGGCGCCCGCCGGTGGGG , CM000679.1:g.41832667_41832692delinsCAGGGCCGGGGCGCCCGCCGGTGGGG | GRCh37 |
| NC_000017.9:g.39188193_39188218delinsCAGGGCCGGGGCGCCCGCCGGTGGGG | NCBI36 |
| NG_008078.2:g.8465_8490delinsCCCCACCGGCGGGCGCCCCGGCCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG MANE Select | ENSP00000301691.1:n.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG | |
| ENST00000301691.2:c.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG | ENSP00000301691.1:n.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG | |
| NM_025237.2:c.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG | NP_079513.1:n.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG | |
| NM_025237.3:c.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG MANE Select | NP_079513.1:n.*18_*43delinsCCCCACCGGCGGGCGCCCCGGCCCTG |