gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006311 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00006234 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210935dup , CM000679.2:g.80210935dup | GRCh38 |
| NC_000017.10:g.78184734dup , CM000679.1:g.78184734dup | GRCh37 |
| NC_000017.9:g.75799329dup | NCBI36 |
| NG_008229.1:g.14467dup | |
| NG_032778.1:g.45944dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703570.1:n.2844+1677dup (CARD14) | ||
| ENST00000326317.11:c.1027dup (SGSH) MANE Select | ENSP00000314606.6:p.Leu343ProfsTer? | |
| ENST00000326317.10:c.1027dup (SGSH) | ENSP00000314606.6:p.Leu343ProfsTer? | |
| ENST00000572257.5:c.551+1137dup (SGSH) | ||
| ENST00000573150.5:c.*237dup (SGSH) | ENSP00000459280.1:n.*237dup | |
| ENST00000575282.5:n.3910dup (SGSH) | ||
| ENST00000576856.1:c.281dup (SGSH) | ENSP00000460720.1:n.281dup | |
| NM_000199.3:c.1027dup (SGSH) | NP_000190.1:p.Leu343ProfsTer? | |
| XM_005257582.2:c.*114dup (SGSH) | XP_005257639.1:n.*114dup | |
| XM_005257583.3:c.949+1137dup (SGSH) | XP_005257640.1:n.949+1137dup | |
| XM_011525127.1:c.*77dup (SGSH) | XP_011523429.1:n.*77dup | |
| NM_000199.4:c.1027dup (SGSH) | NP_000190.1:p.Leu343ProfsTer? | |
| NM_001352921.1:c.*114dup (SGSH) | NP_001339850.1:n.*114dup | |
| NM_001352922.1:c.*77dup (SGSH) | NP_001339851.1:n.*77dup | |
| NR_148201.1:n.1008dup (SGSH) | ||
| XM_005257583.4:c.949+1137dup (SGSH) | XP_005257640.1:n.949+1137dup | |
| XM_017024952.1:c.*931dup (SGSH) | XP_016880441.1:n.*931dup | |
| XR_001752585.1:n.1047dup (SGSH) | ||
| XR_001752586.1:n.969+1137dup (SGSH) | ||
| XR_001752587.1:n.969+1137dup (SGSH) | ||
| XR_001752588.1:n.969+1137dup (SGSH) | ||
| XR_001752589.1:n.969+1137dup (SGSH) | ||
| XR_001752590.1:n.969+1137dup (SGSH) | ||
| XR_001752591.1:n.969+1137dup (SGSH) | ||
| XR_001752592.1:n.969+1137dup (SGSH) | ||
| XR_002958057.1:n.1024+935dup (SGSH) | ||
| NM_000199.5:c.1027dup (SGSH) MANE Select | NP_000190.1:p.Leu343ProfsTer? | |
| NM_001352921.2:c.*114dup (SGSH) | NP_001339850.1:n.*114dup | |
| NM_001352922.2:c.*77dup (SGSH) | NP_001339851.1:n.*77dup | |
| NR_148201.2:n.941dup (SGSH) | ||
| NM_001352921.3:c.*114dup (SGSH) | NP_001339850.1:n.*114dup |