Canonical Allele Identifier: CA2640319292

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210188-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210190dup , CM000679.2:g.80210190dup	GRCh38
NC_000017.10:g.78183989dup , CM000679.1:g.78183989dup	GRCh37
NC_000017.9:g.75798584dup	NCBI36
NG_008229.1:g.15212dup
NG_032778.1:g.45199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+932dup (CARD14)
ENST00000326317.11:c.*263dup (SGSH) MANE Select	ENSP00000314606.6:n.*263dup
ENST00000326317.10:c.*263dup (SGSH)	ENSP00000314606.6:n.*263dup
ENST00000572257.5:c.551+1882dup (SGSH)
ENST00000573150.5:c.*982dup (SGSH)	ENSP00000459280.1:n.*982dup
ENST00000575282.5:n.4655dup (SGSH)
NM_000199.3:c.*263dup (SGSH)	NP_000190.1:n.*263dup
XM_005257583.3:c.949+1882dup (SGSH)	XP_005257640.1:n.949+1882dup
NM_000199.4:c.*263dup (SGSH)	NP_000190.1:n.*263dup
NM_001352921.1:c.*859dup (SGSH)	NP_001339850.1:n.*859dup
NM_001352922.1:c.*822dup (SGSH)	NP_001339851.1:n.*822dup
NR_148201.1:n.1753dup (SGSH)
XM_005257583.4:c.949+1882dup (SGSH)	XP_005257640.1:n.949+1882dup
XM_017024952.1:c.*1676dup (SGSH)	XP_016880441.1:n.*1676dup
XR_001752585.1:n.1792dup (SGSH)
XR_001752586.1:n.969+1882dup (SGSH)
XR_001752587.1:n.969+1882dup (SGSH)
XR_001752588.1:n.969+1882dup (SGSH)
XR_001752589.1:n.969+1882dup (SGSH)
XR_001752590.1:n.969+1882dup (SGSH)
XR_001752591.1:n.969+1882dup (SGSH)
XR_001752592.1:n.969+1882dup (SGSH)
XR_002958057.1:n.1024+1680dup (SGSH)
NM_000199.5:c.*263dup (SGSH) MANE Select	NP_000190.1:n.*263dup
NM_001352921.2:c.*859dup (SGSH)	NP_001339850.1:n.*859dup
NM_001352922.2:c.*822dup (SGSH)	NP_001339851.1:n.*822dup
NR_148201.2:n.1686dup (SGSH)
NM_001352921.3:c.*859dup (SGSH)	NP_001339850.1:n.*859dup