Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658783_10658784insACA , CM000682.2:g.10658783_10658784insACA | GRCh38 |
| NC_000020.10:g.10639431_10639432insACA , CM000682.1:g.10639431_10639432insACA | GRCh37 |
| NC_000020.9:g.10587431_10587432insACA | NCBI36 |
| NG_007496.1:g.20263_20264insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-62_440-61insTGT MANE Select | ENSP00000254958.4:n.440-62_440-61insTGT | |
| ENST00000254958.9:c.440-62_440-61insTGT | ENSP00000254958.4:n.440-62_440-61insTGT | |
| ENST00000423891.6:n.306-62_306-61insTGT | ||
| NM_000214.2:c.440-62_440-61insTGT | NP_000205.1:n.440-62_440-61insTGT | |
| NM_000214.3:c.440-62_440-61insTGT MANE Select | NP_000205.1:n.440-62_440-61insTGT |