Canonical Allele Identifier: CA2573155034

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1383454
• ClinVar RCV Id: RCV001892606
• dbSNP Id: rs2144748721

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214662_80215431del , CM000679.2:g.80214662_80215431del	GRCh38
NC_000017.10:g.78188461_78189230del , CM000679.1:g.78188461_78189230del	GRCh37
NC_000017.9:g.75803056_75803825del	NCBI36
NG_008229.1:g.9974_10743del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1204_2845-435del (CARD14)
ENST00000326317.11:c.250-289_463del (SGSH)
ENST00000326317.10:c.250-289_463del (SGSH)
ENST00000570427.1:c.250-289_481del (SGSH)
ENST00000570923.1:c.285-289_498del (SGSH)
ENST00000571051.5:n.270-289_376-330del (SGSH)
ENST00000571675.5:n.270-289_483del (SGSH)
ENST00000572208.5:n.268-289_374-330del (SGSH)
ENST00000573150.5:c.250-662_357del (SGSH)
ENST00000574505.5:c.195-289_322del (SGSH)
ENST00000575282.5:n.259-289_472del (SGSH)
ENST00000576707.5:c.-12-289_202del (SGSH)
ENST00000576941.5:c.250-1099_250-330del (SGSH)	ENSP00000461160.1:n.250-1099_250-330del
NM_000199.3:c.250-289_463del (SGSH)
XM_005257582.2:c.250-289_463del (SGSH)
XM_005257583.3:c.250-289_463del (SGSH)
XM_011525126.1:c.250-289_463del (SGSH)
XM_011525127.1:c.250-289_463del (SGSH)
XR_934532.1:n.270-289_483del (SGSH)
NM_000199.4:c.250-289_463del (SGSH)
NM_001352921.1:c.250-289_463del (SGSH)
NM_001352922.1:c.250-289_463del (SGSH)
NR_148201.1:n.337-662_444del (SGSH)
XM_005257583.4:c.250-289_463del (SGSH)
XM_017024952.1:c.250-289_463del (SGSH)
XR_001752585.1:n.270-289_483del (SGSH)
XR_001752586.1:n.270-289_483del (SGSH)
XR_001752587.1:n.270-289_483del (SGSH)
XR_001752588.1:n.270-289_483del (SGSH)
XR_001752589.1:n.270-289_483del (SGSH)
XR_001752590.1:n.270-289_483del (SGSH)
XR_001752591.1:n.270-289_483del (SGSH)
XR_001752592.1:n.270-289_483del (SGSH)
XR_002958057.1:n.270-289_483del (SGSH)
XR_934532.2:n.270-289_483del (SGSH)
NM_000199.5:c.250-289_463del (SGSH)
NM_001352921.2:c.250-289_463del (SGSH)
NM_001352922.2:c.250-289_463del (SGSH)
NR_148201.2:n.270-662_377del (SGSH)
NM_001352921.3:c.250-289_463del (SGSH)