Canonical Allele Identifier: CA2640319557

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210280-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210285del , CM000679.2:g.80210285del	GRCh38
NC_000017.10:g.78184084del , CM000679.1:g.78184084del	GRCh37
NC_000017.9:g.75798679del	NCBI36
NG_008229.1:g.15120del
NG_032778.1:g.45294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1027del (CARD14)
ENST00000326317.11:c.*171del (SGSH) MANE Select	ENSP00000314606.6:n.*171del
ENST00000326317.10:c.*171del (SGSH)	ENSP00000314606.6:n.*171del
ENST00000572257.5:c.551+1790del (SGSH)
ENST00000573150.5:c.*890del (SGSH)	ENSP00000459280.1:n.*890del
ENST00000575282.5:n.4563del (SGSH)
NM_000199.3:c.*171del (SGSH)	NP_000190.1:n.*171del
XM_005257583.3:c.949+1790del (SGSH)	XP_005257640.1:n.949+1790del
NM_000199.4:c.*171del (SGSH)	NP_000190.1:n.*171del
NM_001352921.1:c.*767del (SGSH)	NP_001339850.1:n.*767del
NM_001352922.1:c.*730del (SGSH)	NP_001339851.1:n.*730del
NR_148201.1:n.1661del (SGSH)
XM_005257583.4:c.949+1790del (SGSH)	XP_005257640.1:n.949+1790del
XM_017024952.1:c.*1584del (SGSH)	XP_016880441.1:n.*1584del
XR_001752585.1:n.1700del (SGSH)
XR_001752586.1:n.969+1790del (SGSH)
XR_001752587.1:n.969+1790del (SGSH)
XR_001752588.1:n.969+1790del (SGSH)
XR_001752589.1:n.969+1790del (SGSH)
XR_001752590.1:n.969+1790del (SGSH)
XR_001752591.1:n.969+1790del (SGSH)
XR_001752592.1:n.969+1790del (SGSH)
XR_002958057.1:n.1024+1588del (SGSH)
NM_000199.5:c.*171del (SGSH) MANE Select	NP_000190.1:n.*171del
NM_001352921.2:c.*767del (SGSH)	NP_001339850.1:n.*767del
NM_001352922.2:c.*730del (SGSH)	NP_001339851.1:n.*730del
NR_148201.2:n.1594del (SGSH)
NM_001352921.3:c.*767del (SGSH)	NP_001339850.1:n.*767del