Linked Data
ClinVar Variation Id:
280988
dbSNP Id:
rs777956287
ExAC:
17:78184624 AC / A
gnomAD v2:
17-78184624-AC-A
gnomAD v3:
17-80210825-AC-A
gnomAD v4:
17-80210825-AC-A
MyVariant Identifiers:
chr17:g.78184625del (hg19)
chr17:g.78184625delC (hg19)
chr17:g.80210826del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210826del , CM000679.2:g.80210826del | GRCh38 |
| NC_000017.10:g.78184625del , CM000679.1:g.78184625del | GRCh37 |
| NC_000017.9:g.75799220del | NCBI36 |
| NG_008229.1:g.14575del | |
| NG_032778.1:g.45835del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703570.1:n.2844+1568del (CARD14) | ||
| ENST00000326317.11:c.1135del (SGSH) MANE Select | ENSP00000314606.6:p.Val379CysfsTer? | |
| ENST00000326317.10:c.1135del (SGSH) | ENSP00000314606.6:p.Val379CysfsTer? | |
| ENST00000572257.5:c.551+1245del (SGSH) | ||
| ENST00000573150.5:c.*345del (SGSH) | ENSP00000459280.1:n.*345del | |
| ENST00000575282.5:n.4018del (SGSH) | ||
| ENST00000576856.1:c.389del (SGSH) | ENSP00000460720.1:n.389del | |
| NM_000199.3:c.1135del (SGSH) | NP_000190.1:p.Val379CysfsTer? | |
| XM_005257583.3:c.949+1245del (SGSH) | XP_005257640.1:n.949+1245del | |
| NM_000199.4:c.1135del (SGSH) | NP_000190.1:p.Val379CysfsTer? | |
| NM_001352921.1:c.*222del (SGSH) | NP_001339850.1:n.*222del | |
| NM_001352922.1:c.*185del (SGSH) | NP_001339851.1:n.*185del | |
| NR_148201.1:n.1116del (SGSH) | ||
| XM_005257583.4:c.949+1245del (SGSH) | XP_005257640.1:n.949+1245del | |
| XM_017024952.1:c.*1039del (SGSH) | XP_016880441.1:n.*1039del | |
| XR_001752585.1:n.1155del (SGSH) | ||
| XR_001752586.1:n.969+1245del (SGSH) | ||
| XR_001752587.1:n.969+1245del (SGSH) | ||
| XR_001752588.1:n.969+1245del (SGSH) | ||
| XR_001752589.1:n.969+1245del (SGSH) | ||
| XR_001752590.1:n.969+1245del (SGSH) | ||
| XR_001752591.1:n.969+1245del (SGSH) | ||
| XR_001752592.1:n.969+1245del (SGSH) | ||
| XR_002958057.1:n.1024+1043del (SGSH) | ||
| NM_000199.5:c.1135del (SGSH) MANE Select | NP_000190.1:p.Val379CysfsTer? | |
| NM_001352921.2:c.*222del (SGSH) | NP_001339850.1:n.*222del | |
| NM_001352922.2:c.*185del (SGSH) | NP_001339851.1:n.*185del | |
| NR_148201.2:n.1049del (SGSH) | ||
| NM_001352921.3:c.*222del (SGSH) | NP_001339850.1:n.*222del |