Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658727_10658728insACAG , CM000682.2:g.10658727_10658728insACAG | GRCh38 |
| NC_000020.10:g.10639375_10639376insACAG , CM000682.1:g.10639375_10639376insACAG | GRCh37 |
| NC_000020.9:g.10587375_10587376insACAG | NCBI36 |
| NG_007496.1:g.20319_20320insCTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-6_440-5insCTGT MANE Select | ENSP00000254958.4:n.440-6_440-5insCTGT | |
| ENST00000254958.9:c.440-6_440-5insCTGT | ENSP00000254958.4:n.440-6_440-5insCTGT | |
| ENST00000423891.6:n.306-6_306-5insCTGT | ||
| NM_000214.2:c.440-6_440-5insCTGT | NP_000205.1:n.440-6_440-5insCTGT | |
| NM_000214.3:c.440-6_440-5insCTGT MANE Select | NP_000205.1:n.440-6_440-5insCTGT |