Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.55089190_55089191delinsAG , CM000672.2:g.55089190_55089191delinsAG | GRCh38 |
| NC_000010.10:g.56848950_56848951delinsAG , CM000672.1:g.56848950_56848951delinsAG | GRCh37 |
| NC_000010.9:g.56518956_56518957delinsAG | NCBI36 |
| NG_009191.3:g.544992_544993delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458638.1:c.-80+77385_-80+77386delinsCT | ENSP00000394465.1:n.-80+77385_-80+77386de... | |
| ENST00000613346.4:c.-80+77385_-80+77386delinsCT | ENSP00000481211.1:n.-80+77385_-80+77386de... | |
| NM_001354404.1:c.-80+77385_-80+77386delinsCT | NP_001341333.1:n.-80+77385_-80+77386delin... | |
| XM_017016573.2:c.-157+77385_-157+77386delinsCT | XP_016872062.1:n.-157+77385_-157+77386del... | |
| NM_001354404.2:c.-80+77385_-80+77386delinsCT | NP_001341333.1:n.-80+77385_-80+77386delin... |