Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658764_10658765insAGT , CM000682.2:g.10658764_10658765insAGT | GRCh38 |
| NC_000020.10:g.10639412_10639413insAGT , CM000682.1:g.10639412_10639413insAGT | GRCh37 |
| NC_000020.9:g.10587412_10587413insAGT | NCBI36 |
| NG_007496.1:g.20282_20283insACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-43_440-42insACT MANE Select | ENSP00000254958.4:n.440-43_440-42insACT | |
| ENST00000254958.9:c.440-43_440-42insACT | ENSP00000254958.4:n.440-43_440-42insACT | |
| ENST00000423891.6:n.306-43_306-42insACT | ||
| NM_000214.2:c.440-43_440-42insACT | NP_000205.1:n.440-43_440-42insACT | |
| NM_000214.3:c.440-43_440-42insACT MANE Select | NP_000205.1:n.440-43_440-42insACT |