Linked Data
dbSNP Id:
rs1280406358
gnomAD v3:
17-80210254-GCACATGCTCTGGT-G
gnomAD v4:
17-80210254-GCACATGCTCTGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210269_80210281del , CM000679.2:g.80210269_80210281del | GRCh38 |
| NC_000017.10:g.78184068_78184080del , CM000679.1:g.78184068_78184080del | GRCh37 |
| NC_000017.9:g.75798663_75798675del | NCBI36 |
| NG_008229.1:g.15134_15146del | |
| NG_032778.1:g.45278_45290del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703570.1:n.2844+1011_2844+1023del (CARD14) | ||
| ENST00000326317.11:c.*185_*197del (SGSH) MANE Select | ENSP00000314606.6:n.*185_*197del | |
| ENST00000326317.10:c.*185_*197del (SGSH) | ENSP00000314606.6:n.*185_*197del | |
| ENST00000572257.5:c.551+1804_551+1816del (SGSH) | ||
| ENST00000573150.5:c.*904_*916del (SGSH) | ENSP00000459280.1:n.*904_*916del | |
| ENST00000575282.5:n.4577_4589del (SGSH) | ||
| NM_000199.3:c.*185_*197del (SGSH) | NP_000190.1:n.*185_*197del | |
| XM_005257583.3:c.949+1804_949+1816del (SGSH) | XP_005257640.1:n.949+1804_949+1816del | |
| NM_000199.4:c.*185_*197del (SGSH) | NP_000190.1:n.*185_*197del | |
| NM_001352921.1:c.*781_*793del (SGSH) | NP_001339850.1:n.*781_*793del | |
| NM_001352922.1:c.*744_*756del (SGSH) | NP_001339851.1:n.*744_*756del | |
| NR_148201.1:n.1675_1687del (SGSH) | ||
| XM_005257583.4:c.949+1804_949+1816del (SGSH) | XP_005257640.1:n.949+1804_949+1816del | |
| XM_017024952.1:c.*1598_*1610del (SGSH) | XP_016880441.1:n.*1598_*1610del | |
| XR_001752585.1:n.1714_1726del (SGSH) | ||
| XR_001752586.1:n.969+1804_969+1816del (SGSH) | ||
| XR_001752587.1:n.969+1804_969+1816del (SGSH) | ||
| XR_001752588.1:n.969+1804_969+1816del (SGSH) | ||
| XR_001752589.1:n.969+1804_969+1816del (SGSH) | ||
| XR_001752590.1:n.969+1804_969+1816del (SGSH) | ||
| XR_001752591.1:n.969+1804_969+1816del (SGSH) | ||
| XR_001752592.1:n.969+1804_969+1816del (SGSH) | ||
| XR_002958057.1:n.1024+1602_1024+1614del (SGSH) | ||
| NM_000199.5:c.*185_*197del (SGSH) MANE Select | NP_000190.1:n.*185_*197del | |
| NM_001352921.2:c.*781_*793del (SGSH) | NP_001339850.1:n.*781_*793del | |
| NM_001352922.2:c.*744_*756del (SGSH) | NP_001339851.1:n.*744_*756del | |
| NR_148201.2:n.1608_1620del (SGSH) | ||
| NM_001352921.3:c.*781_*793del (SGSH) | NP_001339850.1:n.*781_*793del |