Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800270_24800271delinsAG , CM000666.2:g.24800270_24800271delinsAG | GRCh38 |
| NC_000004.11:g.24801892_24801893delinsAG , CM000666.1:g.24801892_24801893delinsAG | GRCh37 |
| NC_000004.10:g.24410990_24410991delinsAG | NCBI36 |
| NG_012213.1:g.9808_9809delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.*26_*27delinsAG MANE Select | ENSP00000371554.3:n.*26_*27delinsAG | |
| ENST00000382120.3:c.*26_*27delinsAG | ENSP00000371554.3:n.*26_*27delinsAG | |
| NM_003102.2:c.*26_*27delinsAG | NP_003093.2:n.*26_*27delinsAG | |
| XR_427488.1:n.939_940delinsAG | ||
| NM_003102.3:c.*26_*27delinsAG | NP_003093.2:n.*26_*27delinsAG | |
| NM_003102.4:c.*26_*27delinsAG MANE Select | NP_003093.2:n.*26_*27delinsAG |