Canonical Allele Identifier: CA2277864358

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041820066
• gnomAD v4: 17-80214697-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214702_80214704del , CM000679.2:g.80214702_80214704del	GRCh38
NC_000017.10:g.78188501_78188503del , CM000679.1:g.78188501_78188503del	GRCh37
NC_000017.9:g.75803096_75803098del	NCBI36
NG_008229.1:g.10701_10703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1164_2845-1162del (CARD14)
ENST00000326317.11:c.421_423del (SGSH) MANE Select	ENSP00000314606.6:p.Glu141del
ENST00000326317.10:c.421_423del (SGSH)	ENSP00000314606.6:p.Glu141del
ENST00000570427.1:c.439_441del (SGSH)	ENSP00000459765.1:p.Glu147del
ENST00000570923.1:c.456_458del (SGSH)	ENSP00000458200.1:p.Arg153del
ENST00000571051.5:n.375+333_375+335del (SGSH)
ENST00000571675.5:n.441_443del (SGSH)
ENST00000572208.5:n.373+333_373+335del (SGSH)
ENST00000572257.5:c.23_25del (SGSH)
ENST00000573150.5:c.315_317del (SGSH)	ENSP00000459280.1:p.Arg106del
ENST00000574505.5:c.301-21_301-19del (SGSH)
ENST00000575282.5:n.430_432del (SGSH)
ENST00000576707.5:c.160_162del (SGSH)	ENSP00000461128.1:p.Glu54del
ENST00000576941.5:c.250-372_250-370del (SGSH)	ENSP00000461160.1:n.250-372_250-370del
NM_000199.3:c.421_423del (SGSH)	NP_000190.1:p.Glu141del
XM_005257582.2:c.421_423del (SGSH)	XP_005257639.1:p.Glu141del
XM_005257583.3:c.421_423del (SGSH)	XP_005257640.1:p.Glu141del
XM_011525126.1:c.421_423del (SGSH)	XP_011523428.1:p.Glu141del
XM_011525127.1:c.421_423del (SGSH)	XP_011523429.1:p.Glu141del
XR_934532.1:n.441_443del (SGSH)
NM_000199.4:c.421_423del (SGSH)	NP_000190.1:p.Glu141del
NM_001352921.1:c.421_423del (SGSH)	NP_001339850.1:p.Glu141del
NM_001352922.1:c.421_423del (SGSH)	NP_001339851.1:p.Glu141del
NR_148201.1:n.402_404del (SGSH)
XM_005257583.4:c.421_423del (SGSH)	XP_005257640.1:p.Glu141del
XM_017024952.1:c.421_423del (SGSH)	XP_016880441.1:p.Glu141del
XR_001752585.1:n.441_443del (SGSH)
XR_001752586.1:n.441_443del (SGSH)
XR_001752587.1:n.441_443del (SGSH)
XR_001752588.1:n.441_443del (SGSH)
XR_001752589.1:n.441_443del (SGSH)
XR_001752590.1:n.441_443del (SGSH)
XR_001752591.1:n.441_443del (SGSH)
XR_001752592.1:n.441_443del (SGSH)
XR_002958057.1:n.441_443del (SGSH)
XR_934532.2:n.441_443del (SGSH)
NM_000199.5:c.421_423del (SGSH) MANE Select	NP_000190.1:p.Glu141del
NM_001352921.2:c.421_423del (SGSH)	NP_001339850.1:p.Glu141del
NM_001352922.2:c.421_423del (SGSH)	NP_001339851.1:p.Glu141del
NR_148201.2:n.335_337del (SGSH)
NM_001352921.3:c.421_423del (SGSH)	NP_001339850.1:p.Glu141del