Canonical Allele Identifier: CA986724366

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1452542
• ClinVar RCV Id: RCV001999859
• dbSNP Id: rs2041772144

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213845_80213857del , CM000679.2:g.80213845_80213857del	GRCh38
NC_000017.10:g.78187644_78187656del , CM000679.1:g.78187644_78187656del	GRCh37
NC_000017.9:g.75802239_75802251del	NCBI36
NG_008229.1:g.11545_11557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-2021_2845-2009del (CARD14)
ENST00000326317.11:c.693_705del (SGSH) MANE Select	ENSP00000314606.6:p.Ala232TrpfsTer28
ENST00000326317.10:c.693_705del (SGSH)	ENSP00000314606.6:p.Ala232TrpfsTer28
ENST00000570923.1:c.728_740del (SGSH)	ENSP00000458200.1:p.Gln243ProfsTer24
ENST00000572208.5:n.560_572del (SGSH)
ENST00000572257.5:c.295_307del (SGSH)
ENST00000573150.5:c.587_599del (SGSH)	ENSP00000459280.1:p.Gln196ProfsTer24
ENST00000574505.5:c.552_564del (SGSH)
ENST00000575282.5:n.988_1000del (SGSH)
ENST00000576941.5:c.*109_*121del (SGSH)	ENSP00000461160.1:n.*109_*121del
NM_000199.3:c.693_705del (SGSH)	NP_000190.1:p.Ala232TrpfsTer28
XM_005257582.2:c.693_705del (SGSH)	XP_005257639.1:p.Ala232TrpfsTer28
XM_005257583.3:c.693_705del (SGSH)	XP_005257640.1:p.Ala232TrpfsTer28
XM_011525126.1:c.693_705del (SGSH)	XP_011523428.1:p.Ala232TrpfsTer28
XM_011525127.1:c.693_705del (SGSH)	XP_011523429.1:p.Ala232TrpfsTer28
XR_934532.1:n.713_725del (SGSH)
NM_000199.4:c.693_705del (SGSH)	NP_000190.1:p.Ala232TrpfsTer28
NM_001352921.1:c.693_705del (SGSH)	NP_001339850.1:p.Ala232TrpfsTer28
NM_001352922.1:c.693_705del (SGSH)	NP_001339851.1:p.Ala232TrpfsTer28
NR_148201.1:n.674_686del (SGSH)
XM_005257583.4:c.693_705del (SGSH)	XP_005257640.1:p.Ala232TrpfsTer28
XM_017024952.1:c.693_705del (SGSH)	XP_016880441.1:p.Ala232TrpfsTer28
XR_001752585.1:n.713_725del (SGSH)
XR_001752586.1:n.713_725del (SGSH)
XR_001752587.1:n.713_725del (SGSH)
XR_001752588.1:n.713_725del (SGSH)
XR_001752589.1:n.713_725del (SGSH)
XR_001752590.1:n.713_725del (SGSH)
XR_001752591.1:n.713_725del (SGSH)
XR_001752592.1:n.713_725del (SGSH)
XR_002958057.1:n.713_725del (SGSH)
XR_934532.2:n.713_725del (SGSH)
NM_000199.5:c.693_705del (SGSH) MANE Select	NP_000190.1:p.Ala232TrpfsTer28
NM_001352921.2:c.693_705del (SGSH)	NP_001339850.1:p.Ala232TrpfsTer28
NM_001352922.2:c.693_705del (SGSH)	NP_001339851.1:p.Ala232TrpfsTer28
NR_148201.2:n.607_619del (SGSH)
NM_001352921.3:c.693_705del (SGSH)	NP_001339850.1:p.Ala232TrpfsTer28