Canonical Allele Identifier: CA986727714

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041612271
• gnomAD v3: 17-80210745-GT-G
• gnomAD v4: 17-80210745-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210746del , CM000679.2:g.80210746del	GRCh38
NC_000017.10:g.78184545del , CM000679.1:g.78184545del	GRCh37
NC_000017.9:g.75799140del	NCBI36
NG_008229.1:g.14655del
NG_032778.1:g.45755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1488del (CARD14)
ENST00000326317.11:c.1215del (SGSH) MANE Select	ENSP00000314606.6:p.Thr407ProfsTer6
ENST00000326317.10:c.1215del (SGSH)	ENSP00000314606.6:p.Thr407ProfsTer6
ENST00000572257.5:c.551+1325del (SGSH)
ENST00000573150.5:c.*425del (SGSH)	ENSP00000459280.1:n.*425del
ENST00000575282.5:n.4098del (SGSH)
ENST00000576856.1:c.469del (SGSH)	ENSP00000460720.1:n.469del
NM_000199.3:c.1215del (SGSH)	NP_000190.1:p.Thr407ProfsTer6
XM_005257583.3:c.949+1325del (SGSH)	XP_005257640.1:n.949+1325del
NM_000199.4:c.1215del (SGSH)	NP_000190.1:p.Thr407ProfsTer6
NM_001352921.1:c.*302del (SGSH)	NP_001339850.1:n.*302del
NM_001352922.1:c.*265del (SGSH)	NP_001339851.1:n.*265del
NR_148201.1:n.1196del (SGSH)
XM_005257583.4:c.949+1325del (SGSH)	XP_005257640.1:n.949+1325del
XM_017024952.1:c.*1119del (SGSH)	XP_016880441.1:n.*1119del
XR_001752585.1:n.1235del (SGSH)
XR_001752586.1:n.969+1325del (SGSH)
XR_001752587.1:n.969+1325del (SGSH)
XR_001752588.1:n.969+1325del (SGSH)
XR_001752589.1:n.969+1325del (SGSH)
XR_001752590.1:n.969+1325del (SGSH)
XR_001752591.1:n.969+1325del (SGSH)
XR_001752592.1:n.969+1325del (SGSH)
XR_002958057.1:n.1024+1123del (SGSH)
NM_000199.5:c.1215del (SGSH) MANE Select	NP_000190.1:p.Thr407ProfsTer6
NM_001352921.2:c.*302del (SGSH)	NP_001339850.1:n.*302del
NM_001352922.2:c.*265del (SGSH)	NP_001339851.1:n.*265del
NR_148201.2:n.1129del (SGSH)
NM_001352921.3:c.*302del (SGSH)	NP_001339850.1:n.*302del