Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028759_135028766delinsCGCGTGGT , CM000667.2:g.135028759_135028766delinsCGCGTGGT | GRCh38 |
| NC_000005.9:g.134364449_134364456delinsCGCGTGGT , CM000667.1:g.134364449_134364456delinsCGCGTGGT | GRCh37 |
| NC_000005.8:g.134392348_134392355delinsCGCGTGGT | NCBI36 |
| NG_012114.1:g.10509_10516delinsACCACGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*13_*20delinsACCACGCG MANE Select | ENSP00000265340.6:n.*13_*20delinsACCACGCG | |
| ENST00000265340.11:c.*13_*20delinsACCACGCG | ENSP00000265340.6:n.*13_*20delinsACCACGCG | |
| ENST00000506438.5:c.*13_*20delinsACCACGCG | ENSP00000427542.1:n.*13_*20delinsACCACGCG | |
| NM_002653.4:c.*13_*20delinsACCACGCG | NP_002644.4:n.*13_*20delinsACCACGCG | |
| NM_002653.5:c.*13_*20delinsACCACGCG MANE Select | NP_002644.4:n.*13_*20delinsACCACGCG |