Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610414_1610424delinsCGGGCGGCGCG , CM000668.2:g.1610414_1610424delinsCGGGCGGCGCG | GRCh38 |
| NC_000006.11:g.1610649_1610659delinsCGGGCGGCGCG , CM000668.1:g.1610649_1610659delinsCGGGCGGCGCG | GRCh37 |
| NC_000006.10:g.1555648_1555658delinsCGGGCGGCGCG | NCBI36 |
| NG_009368.1:g.4969_4979delinsCGGGCGGCGCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-32_-22delinsCGGGCGGCGCG MANE Select | ENSP00000493906.1:n.-32_-22delinsCGGGCGGC... | |
| ENST00000380874.3:c.-32_-22delinsCGGGCGGCGCG | ENSP00000370256.2:n.-32_-22delinsCGGGCGGC... | |
| NM_001453.3:c.-32_-22delinsCGGGCGGCGCG MANE Select | NP_001444.2:n.-32_-22delinsCGGGCGGCGCG |