Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29946044_29946045delinsAC , CM000668.2:g.29946044_29946045delinsAC | GRCh38 |
| NC_000006.11:g.29913821_29913822delinsAC , CM000668.1:g.29913821_29913822delinsAC | GRCh37 |
| NC_000006.10:g.30021800_30021801delinsAC | NCBI36 |
| NG_029217.2:g.8580_8581delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706901.1:c.*589_*590delinsAC | ENSP00000516612.1:n.*589_*590delinsAC | |
| ENST00000706902.1:c.1093+763_1093+764delinsAC | ENSP00000516613.1:n.1093+763_1093+764delinsAC | |
| ENST00000706903.1:c.*124+465_*124+466delinsAC | ENSP00000516614.1:n.*124+465_*124+466delinsAC | |
| ENST00000706904.1:c.1093+763_1093+764delinsAC | ENSP00000516615.1:n.1093+763_1093+764delinsAC | |
| ENST00000706905.1:c.*589_*590delinsAC | ENSP00000516616.1:n.*589_*590delinsAC |