Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658786_10658787insACAA , CM000682.2:g.10658786_10658787insACAA | GRCh38 |
| NC_000020.10:g.10639434_10639435insACAA , CM000682.1:g.10639434_10639435insACAA | GRCh37 |
| NC_000020.9:g.10587434_10587435insACAA | NCBI36 |
| NG_007496.1:g.20260_20261insTTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-65_440-64insTTGT MANE Select | ENSP00000254958.4:n.440-65_440-64insTTGT | |
| ENST00000254958.9:c.440-65_440-64insTTGT | ENSP00000254958.4:n.440-65_440-64insTTGT | |
| ENST00000423891.6:n.306-65_306-64insTTGT | ||
| NM_000214.2:c.440-65_440-64insTTGT | NP_000205.1:n.440-65_440-64insTTGT | |
| NM_000214.3:c.440-65_440-64insTTGT MANE Select | NP_000205.1:n.440-65_440-64insTTGT |