Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190412_204190421delinsCCGCCCCCCG , CM000663.2:g.204190412_204190421delinsCCGCCCCCCG | GRCh38 |
| NC_000001.10:g.204159540_204159549delinsCCGCCCCCCG , CM000663.1:g.204159540_204159549delinsCCGCCCCCCG | GRCh37 |
| NC_000001.9:g.202426163_202426172delinsCCGCCCCCCG | NCBI36 |
| NG_032151.1:g.11071_11080delinsCGGGGGGCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*63_*72delinsCGGGGGGCGG MANE Select | ENSP00000356162.4:n.*63_*72delinsCGGGGGGCGG | |
| ENST00000367194.4:c.*63_*72delinsCGGGGGGCGG | ENSP00000356162.4:n.*63_*72delinsCGGGGGGCGG | |
| NM_002256.3:c.*63_*72delinsCGGGGGGCGG | NP_002247.3:n.*63_*72delinsCGGGGGGCGG | |
| XM_011509525.1:c.*63_*72delinsCGGGGGGCGG | XP_011507827.1:n.*63_*72delinsCGGGGGGCGG | |
| NM_002256.4:c.*63_*72delinsCGGGGGGCGG MANE Select | NP_002247.3:n.*63_*72delinsCGGGGGGCGG |