Canonical Allele Identifier: CA775533820

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs1209700818
• MyVariant Identifiers: chr17:g.78184584_78184585insA (hg19) ; chr17:g.80210785_80210786insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210787dup , CM000679.2:g.80210787dup	GRCh38
NC_000017.10:g.78184586dup , CM000679.1:g.78184586dup	GRCh37
NC_000017.9:g.75799181dup	NCBI36
NG_008229.1:g.14615dup
NG_032778.1:g.45796dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1529dup (CARD14)
ENST00000326317.11:c.1175dup (SGSH) MANE Select	ENSP00000314606.6:p.Lys393GlnfsTer?
ENST00000326317.10:c.1175dup (SGSH)	ENSP00000314606.6:p.Lys393GlnfsTer?
ENST00000572257.5:c.551+1285dup (SGSH)
ENST00000573150.5:c.*385dup (SGSH)	ENSP00000459280.1:n.*385dup
ENST00000575282.5:n.4058dup (SGSH)
ENST00000576856.1:c.429dup (SGSH)	ENSP00000460720.1:n.429dup
NM_000199.3:c.1175dup (SGSH)	NP_000190.1:p.Lys393GlnfsTer?
XM_005257583.3:c.949+1285dup (SGSH)	XP_005257640.1:n.949+1285dup
NM_000199.4:c.1175dup (SGSH)	NP_000190.1:p.Lys393GlnfsTer?
NM_001352921.1:c.*262dup (SGSH)	NP_001339850.1:n.*262dup
NM_001352922.1:c.*225dup (SGSH)	NP_001339851.1:n.*225dup
NR_148201.1:n.1156dup (SGSH)
XM_005257583.4:c.949+1285dup (SGSH)	XP_005257640.1:n.949+1285dup
XM_017024952.1:c.*1079dup (SGSH)	XP_016880441.1:n.*1079dup
XR_001752585.1:n.1195dup (SGSH)
XR_001752586.1:n.969+1285dup (SGSH)
XR_001752587.1:n.969+1285dup (SGSH)
XR_001752588.1:n.969+1285dup (SGSH)
XR_001752589.1:n.969+1285dup (SGSH)
XR_001752590.1:n.969+1285dup (SGSH)
XR_001752591.1:n.969+1285dup (SGSH)
XR_001752592.1:n.969+1285dup (SGSH)
XR_002958057.1:n.1024+1083dup (SGSH)
NM_000199.5:c.1175dup (SGSH) MANE Select	NP_000190.1:p.Lys393GlnfsTer?
NM_001352921.2:c.*262dup (SGSH)	NP_001339850.1:n.*262dup
NM_001352922.2:c.*225dup (SGSH)	NP_001339851.1:n.*225dup
NR_148201.2:n.1089dup (SGSH)
NM_001352921.3:c.*262dup (SGSH)	NP_001339850.1:n.*262dup