Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29946158_29946159delinsCT , CM000668.2:g.29946158_29946159delinsCT | GRCh38 |
| NC_000006.11:g.29913935_29913936delinsCT , CM000668.1:g.29913935_29913936delinsCT | GRCh37 |
| NC_000006.10:g.30021914_30021915delinsCT | NCBI36 |
| NG_029217.2:g.8694_8695delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706901.1:c.*703_*704delinsCT | ENSP00000516612.1:n.*703_*704delinsCT | |
| ENST00000706902.1:c.1093+877_1093+878delinsCT | ENSP00000516613.1:n.1093+877_1093+878delinsCT | |
| ENST00000706903.1:c.*124+579_*124+580delinsCT | ENSP00000516614.1:n.*124+579_*124+580delinsCT | |
| ENST00000706904.1:c.1093+877_1093+878delinsCT | ENSP00000516615.1:n.1093+877_1093+878delinsCT | |
| ENST00000706905.1:c.*703_*704delinsCT | ENSP00000516616.1:n.*703_*704delinsCT |