Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688570_153688659del , CM000685.2:g.153688570_153688659del | GRCh38 |
| NC_000023.10:g.152954025_152954114del , CM000685.1:g.152954025_152954114del | GRCh37 |
| NC_000023.9:g.152607219_152607308del | NCBI36 |
| NG_012016.1:g.5274_5363del | |
| NG_012016.2:g.5274_5363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.-5_85del (SLC6A8) | ||
| ENST00000253122.9:c.-5_85del (SLC6A8) | ||
| ENST00000458354.5:c.-3+158_-3+247del (PNCK) | ENSP00000401542.1:n.-3+158_-3+247del | |
| ENST00000480693.1:n.64+158_64+247del (PNCK) | ||
| NM_001142805.1:c.-5_85del (SLC6A8) | ||
| NM_005629.3:c.-5_85del (SLC6A8) | ||
| NM_005629.4:c.-5_85del (SLC6A8) | ||
| NM_001142805.2:c.-5_85del (SLC6A8) |