Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420234_23420236delinsTCTG , CM000676.2:g.23420234_23420236delinsTCTG | GRCh38 |
| NC_000014.8:g.23889443_23889445delinsTCTG , CM000676.1:g.23889443_23889445delinsTCTG | GRCh37 |
| NC_000014.7:g.22959283_22959285delinsTCTG | NCBI36 |
| NG_007884.1:g.20426_20428delinsCAGA , LRG_384:g.20426_20428delinsCAGA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.3:c.3337-2_3337delinsCAGA | |
| NM_000257.4:c.3337-2_3337delinsCAGA | |
| ENST00000355349.3:c.3337-2_3337delinsCAGA | |
| ENST00000355349.4:c.3337-2_3337delinsCAGA | |
| XM_017021340.1:c.3337-2_3337delinsCAGA | |
| XR_245686.3:n.3445-2_3445delinsCAGA |