Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658910_10658911delinsTG , CM000682.2:g.10658910_10658911delinsTG | GRCh38 |
| NC_000020.10:g.10639558_10639559delinsTG , CM000682.1:g.10639558_10639559delinsTG | GRCh37 |
| NC_000020.9:g.10587558_10587559delinsTG | NCBI36 |
| NG_007496.1:g.20136_20137delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-189_440-188delinsCA MANE Select | ENSP00000254958.4:n.440-189_440-188delinsCA | |
| ENST00000254958.9:c.440-189_440-188delinsCA | ENSP00000254958.4:n.440-189_440-188delinsCA | |
| ENST00000423891.6:n.306-189_306-188delinsCA | ||
| NM_000214.2:c.440-189_440-188delinsCA | NP_000205.1:n.440-189_440-188delinsCA | |
| NM_000214.3:c.440-189_440-188delinsCA MANE Select | NP_000205.1:n.440-189_440-188delinsCA |