Canonical Allele Identifier: CA2695200367

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 2678721
• ClinVar RCV Id: RCV003472712

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214744_80214797del , CM000679.2:g.80214744_80214797del	GRCh38
NC_000017.10:g.78188543_78188596del , CM000679.1:g.78188543_78188596del	GRCh37
NC_000017.9:g.75803138_75803191del	NCBI36
NG_008229.1:g.10607_10660del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1122_2845-1069del (CARD14)
ENST00000326317.11:c.356-29_380del (SGSH)
ENST00000326317.10:c.356-29_380del (SGSH)
ENST00000570427.1:c.356-11_398del (SGSH)
ENST00000570923.1:c.391-29_415del (SGSH)
ENST00000571051.5:n.375+239_375+292del (SGSH)
ENST00000571675.5:n.376-29_400del (SGSH)
ENST00000572208.5:n.373+239_373+292del (SGSH)
ENST00000573150.5:c.250-29_274del (SGSH)
ENST00000574505.5:c.301-115_301-62del (SGSH)
ENST00000575282.5:n.365-29_389del (SGSH)
ENST00000576707.5:c.95-29_119del (SGSH)
ENST00000576941.5:c.250-466_250-413del (SGSH)	ENSP00000461160.1:n.250-466_250-413del
NM_000199.3:c.356-29_380del (SGSH)
XM_005257582.2:c.356-29_380del (SGSH)
XM_005257583.3:c.356-29_380del (SGSH)
XM_011525126.1:c.356-29_380del (SGSH)
XM_011525127.1:c.356-29_380del (SGSH)
XR_934532.1:n.376-29_400del (SGSH)
NM_000199.4:c.356-29_380del (SGSH)
NM_001352921.1:c.356-29_380del (SGSH)
NM_001352922.1:c.356-29_380del (SGSH)
NR_148201.1:n.337-29_361del (SGSH)
XM_005257583.4:c.356-29_380del (SGSH)
XM_017024952.1:c.356-29_380del (SGSH)
XR_001752585.1:n.376-29_400del (SGSH)
XR_001752586.1:n.376-29_400del (SGSH)
XR_001752587.1:n.376-29_400del (SGSH)
XR_001752588.1:n.376-29_400del (SGSH)
XR_001752589.1:n.376-29_400del (SGSH)
XR_001752590.1:n.376-29_400del (SGSH)
XR_001752591.1:n.376-29_400del (SGSH)
XR_001752592.1:n.376-29_400del (SGSH)
XR_002958057.1:n.376-29_400del (SGSH)
XR_934532.2:n.376-29_400del (SGSH)
NM_000199.5:c.356-29_380del (SGSH)
NM_001352921.2:c.356-29_380del (SGSH)
NM_001352922.2:c.356-29_380del (SGSH)
NR_148201.2:n.270-29_294del (SGSH)
NM_001352921.3:c.356-29_380del (SGSH)