Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688836_153688837delinsTT , CM000685.2:g.153688836_153688837delinsTT | GRCh38 |
| NC_000023.10:g.152954291_152954292delinsTT , CM000685.1:g.152954291_152954292delinsTT | GRCh37 |
| NC_000023.9:g.152607485_152607486delinsTT | NCBI36 |
| NG_012016.1:g.5540_5541delinsTT | |
| NG_012016.2:g.5540_5541delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.262_262+1delinsTT (SLC6A8) | ||
| ENST00000253122.9:c.262_262+1delinsTT (SLC6A8) | ||
| ENST00000458354.5:c.-25_-24delinsAA (PNCK) | ENSP00000401542.1:n.-25_-24delinsAA | |
| ENST00000476466.1:n.114_114+1delinsTT (SLC6A8) | ||
| ENST00000480693.1:n.42_43delinsAA (PNCK) | ||
| NM_001142805.1:c.262_262+1delinsTT (SLC6A8) | ||
| NM_005629.3:c.262_262+1delinsTT (SLC6A8) | ||
| NM_005629.4:c.262_262+1delinsTT (SLC6A8) | ||
| NM_001142805.2:c.262_262+1delinsTT (SLC6A8) |