Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532180_129532187delinsAGCGCTCG , CM000665.2:g.129532180_129532187delinsAGCGCTCG | GRCh38 |
| NC_000003.11:g.129251023_129251030delinsAGCGCTCG , CM000665.1:g.129251023_129251030delinsAGCGCTCG | GRCh37 |
| NC_000003.10:g.130733713_130733720delinsAGCGCTCG | NCBI36 |
| NG_009115.1:g.8542_8549delinsAGCGCTCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.531-71_531-64delinsAGCGCTCG MANE Select | ENSP00000296271.3:n.531-71_531-64delinsAG... | |
| ENST00000296271.3:c.531-71_531-64delinsAGCGCTCG | ENSP00000296271.3:n.531-71_531-64delinsAG... | |
| NM_000539.3:c.531-71_531-64delinsAGCGCTCG MANE Select | NP_000530.1:n.531-71_531-64delinsAGCGCTCG... |