Canonical Allele Identifier: CA2277862024

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041576260
• gnomAD v4: 17-80210179-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210182del , CM000679.2:g.80210182del	GRCh38
NC_000017.10:g.78183981del , CM000679.1:g.78183981del	GRCh37
NC_000017.9:g.75798576del	NCBI36
NG_008229.1:g.15221del
NG_032778.1:g.45191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+924del (CARD14)
ENST00000326317.11:c.*272del (SGSH) MANE Select	ENSP00000314606.6:n.*272del
ENST00000326317.10:c.*272del (SGSH)	ENSP00000314606.6:n.*272del
ENST00000572257.5:c.551+1891del (SGSH)
ENST00000573150.5:c.*991del (SGSH)	ENSP00000459280.1:n.*991del
ENST00000575282.5:n.4664del (SGSH)
NM_000199.3:c.*272del (SGSH)	NP_000190.1:n.*272del
XM_005257583.3:c.949+1891del (SGSH)	XP_005257640.1:n.949+1891del
NM_000199.4:c.*272del (SGSH)	NP_000190.1:n.*272del
NM_001352921.1:c.*868del (SGSH)	NP_001339850.1:n.*868del
NM_001352922.1:c.*831del (SGSH)	NP_001339851.1:n.*831del
NR_148201.1:n.1762del (SGSH)
XM_005257583.4:c.949+1891del (SGSH)	XP_005257640.1:n.949+1891del
XM_017024952.1:c.*1685del (SGSH)	XP_016880441.1:n.*1685del
XR_001752585.1:n.1801del (SGSH)
XR_001752586.1:n.969+1891del (SGSH)
XR_001752587.1:n.969+1891del (SGSH)
XR_001752588.1:n.969+1891del (SGSH)
XR_001752589.1:n.969+1891del (SGSH)
XR_001752590.1:n.969+1891del (SGSH)
XR_001752591.1:n.969+1891del (SGSH)
XR_001752592.1:n.969+1891del (SGSH)
XR_002958057.1:n.1024+1689del (SGSH)
NM_000199.5:c.*272del (SGSH) MANE Select	NP_000190.1:n.*272del
NM_001352921.2:c.*868del (SGSH)	NP_001339850.1:n.*868del
NM_001352922.2:c.*831del (SGSH)	NP_001339851.1:n.*831del
NR_148201.2:n.1695del (SGSH)
NM_001352921.3:c.*868del (SGSH)	NP_001339850.1:n.*868del