Canonical Allele Identifier: CA8817678
Gene: CARD14 HGNC NCBI
SGSH HGNC NCBI
gnomAD v2:
17:78184679 CG / C
gnomAD v3:
17:80210880 CG / C
gnomAD v4:
chr17-80210880-CG-C
Joint Max Group AF 0.00011729 (NFE)
Genomes Max Group AF 0.00005277 (AMR)
Exomes Max Group AF 0.00011895 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210882del , CM000679.2:g.80210882del GRCh38
NC_000017.10:g.78184681del , CM000679.1:g.78184681del GRCh37
NC_000017.9:g.75799276del NCBI36
NG_008229.1:g.14520del
NG_032778.1:g.45891del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1624del (CARD14)
ENST00000326317.11:c.1080del (SGSH) MANE Select ENSP00000314606.6:p.Val361SerfsTer?
ENST00000326317.10:c.1080del (SGSH) ENSP00000314606.6:p.Val361SerfsTer?
ENST00000572257.5:c.551+1190del (SGSH)
ENST00000573150.5:c.*290del (SGSH) ENSP00000459280.1:n.*290del
ENST00000575282.5:n.3963del (SGSH)
ENST00000576856.1:c.334del (SGSH) ENSP00000460720.1:n.334del
NM_000199.3:c.1080del (SGSH) NP_000190.1:p.Val361SerfsTer?
XM_005257583.3:c.949+1190del (SGSH) XP_005257640.1:n.949+1190del
NM_000199.4:c.1080del (SGSH) NP_000190.1:p.Val361SerfsTer?
NM_001352921.1:c.*167del (SGSH) NP_001339850.1:n.*167del
NM_001352922.1:c.*130del (SGSH) NP_001339851.1:n.*130del
NR_148201.1:n.1061del (SGSH)
XM_005257583.4:c.949+1190del (SGSH) XP_005257640.1:n.949+1190del
XM_017024952.1:c.*984del (SGSH) XP_016880441.1:n.*984del
XR_001752585.1:n.1100del (SGSH)
XR_001752586.1:n.969+1190del (SGSH)
XR_001752587.1:n.969+1190del (SGSH)
XR_001752588.1:n.969+1190del (SGSH)
XR_001752589.1:n.969+1190del (SGSH)
XR_001752590.1:n.969+1190del (SGSH)
XR_001752591.1:n.969+1190del (SGSH)
XR_001752592.1:n.969+1190del (SGSH)
XR_002958057.1:n.1024+988del (SGSH)
NM_000199.5:c.1080del (SGSH) MANE Select NP_000190.1:p.Val361SerfsTer?
NM_001352921.2:c.*167del (SGSH) NP_001339850.1:n.*167del
NM_001352922.2:c.*130del (SGSH) NP_001339851.1:n.*130del
NR_148201.2:n.994del (SGSH)
NM_001352921.3:c.*167del (SGSH) NP_001339850.1:n.*167del
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