Linked Data
ClinVar Variation Id:
287037
dbSNP Id:
rs752914124
gnomAD v2:
17-78184477-CGGAGGTCCTTG-C
gnomAD v4:
17-80210678-CGGAGGTCCTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210679_80210689del , CM000679.2:g.80210679_80210689del | GRCh38 |
| NC_000017.10:g.78184478_78184488del , CM000679.1:g.78184478_78184488del | GRCh37 |
| NC_000017.9:g.75799073_75799083del | NCBI36 |
| NG_008229.1:g.14712_14722del | |
| NG_032778.1:g.45688_45698del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703570.1:n.2844+1421_2844+1431del (CARD14) | ||
| ENST00000326317.11:c.1272_1282del (SGSH) MANE Select | ENSP00000314606.6:p.Tyr424Ter | |
| ENST00000326317.10:c.1272_1282del (SGSH) | ENSP00000314606.6:p.Tyr424Ter | |
| ENST00000572257.5:c.551+1382_551+1392del (SGSH) | ||
| ENST00000573150.5:c.*482_*492del (SGSH) | ENSP00000459280.1:n.*482_*492del | |
| ENST00000575282.5:n.4155_4165del (SGSH) | ||
| ENST00000576856.1:c.526_536del (SGSH) | ENSP00000460720.1:n.526_536del | |
| NM_000199.3:c.1272_1282del (SGSH) | NP_000190.1:p.Tyr424Ter | |
| XM_005257583.3:c.949+1382_949+1392del (SGSH) | XP_005257640.1:n.949+1382_949+1392del | |
| NM_000199.4:c.1272_1282del (SGSH) | NP_000190.1:p.Tyr424Ter | |
| NM_001352921.1:c.*359_*369del (SGSH) | NP_001339850.1:n.*359_*369del | |
| NM_001352922.1:c.*322_*332del (SGSH) | NP_001339851.1:n.*322_*332del | |
| NR_148201.1:n.1253_1263del (SGSH) | ||
| XM_005257583.4:c.949+1382_949+1392del (SGSH) | XP_005257640.1:n.949+1382_949+1392del | |
| XM_017024952.1:c.*1176_*1186del (SGSH) | XP_016880441.1:n.*1176_*1186del | |
| XR_001752585.1:n.1292_1302del (SGSH) | ||
| XR_001752586.1:n.969+1382_969+1392del (SGSH) | ||
| XR_001752587.1:n.969+1382_969+1392del (SGSH) | ||
| XR_001752588.1:n.969+1382_969+1392del (SGSH) | ||
| XR_001752589.1:n.969+1382_969+1392del (SGSH) | ||
| XR_001752590.1:n.969+1382_969+1392del (SGSH) | ||
| XR_001752591.1:n.969+1382_969+1392del (SGSH) | ||
| XR_001752592.1:n.969+1382_969+1392del (SGSH) | ||
| XR_002958057.1:n.1024+1180_1024+1190del (SGSH) | ||
| NM_000199.5:c.1272_1282del (SGSH) MANE Select | NP_000190.1:p.Tyr424Ter | |
| NM_001352921.2:c.*359_*369del (SGSH) | NP_001339850.1:n.*359_*369del | |
| NM_001352922.2:c.*322_*332del (SGSH) | NP_001339851.1:n.*322_*332del | |
| NR_148201.2:n.1186_1196del (SGSH) | ||
| NM_001352921.3:c.*359_*369del (SGSH) | NP_001339850.1:n.*359_*369del |