Canonical Allele Identifier: CA2277863708

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041757214
• gnomAD v3: 17-80213551-GAA-G
• gnomAD v4: 17-80213551-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213552_80213553del , CM000679.2:g.80213552_80213553del	GRCh38
NC_000017.10:g.78187351_78187352del , CM000679.1:g.78187351_78187352del	GRCh37
NC_000017.9:g.75801946_75801947del	NCBI36
NG_008229.1:g.11848_11849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-2314_2845-2313del (CARD14)
ENST00000326317.11:c.745+251_745+252del (SGSH) MANE Select	ENSP00000314606.6:n.745+251_745+252del
ENST00000326317.10:c.745+251_745+252del (SGSH)	ENSP00000314606.6:n.745+251_745+252del
ENST00000570923.1:c.780+251_780+252del (SGSH)	ENSP00000458200.1:n.780+251_780+252del
ENST00000572257.5:c.347+251_347+252del (SGSH)
ENST00000573150.5:c.639+251_639+252del (SGSH)	ENSP00000459280.1:n.639+251_639+252del
ENST00000575282.5:n.1291_1292del (SGSH)
ENST00000576941.5:c.*161+251_*161+252del (SGSH)	ENSP00000461160.1:n.*161+251_*161+252del
NM_000199.3:c.745+251_745+252del (SGSH)	NP_000190.1:n.745+251_745+252del
XM_005257582.2:c.745+251_745+252del (SGSH)	XP_005257639.1:n.745+251_745+252del
XM_005257583.3:c.745+251_745+252del (SGSH)	XP_005257640.1:n.745+251_745+252del
XM_011525126.1:c.745+251_745+252del (SGSH)	XP_011523428.1:n.745+251_745+252del
XM_011525127.1:c.745+251_745+252del (SGSH)	XP_011523429.1:n.745+251_745+252del
XR_934532.1:n.765+251_765+252del (SGSH)
NM_000199.4:c.745+251_745+252del (SGSH)	NP_000190.1:n.745+251_745+252del
NM_001352921.1:c.745+251_745+252del (SGSH)	NP_001339850.1:n.745+251_745+252del
NM_001352922.1:c.745+251_745+252del (SGSH)	NP_001339851.1:n.745+251_745+252del
NR_148201.1:n.726+251_726+252del (SGSH)
XM_005257583.4:c.745+251_745+252del (SGSH)	XP_005257640.1:n.745+251_745+252del
XM_017024952.1:c.745+251_745+252del (SGSH)	XP_016880441.1:n.745+251_745+252del
XR_001752585.1:n.765+251_765+252del (SGSH)
XR_001752586.1:n.765+251_765+252del (SGSH)
XR_001752587.1:n.765+251_765+252del (SGSH)
XR_001752588.1:n.765+251_765+252del (SGSH)
XR_001752589.1:n.765+251_765+252del (SGSH)
XR_001752590.1:n.765+251_765+252del (SGSH)
XR_001752591.1:n.765+251_765+252del (SGSH)
XR_001752592.1:n.765+251_765+252del (SGSH)
XR_002958057.1:n.765+251_765+252del (SGSH)
XR_934532.2:n.765+251_765+252del (SGSH)
NM_000199.5:c.745+251_745+252del (SGSH) MANE Select	NP_000190.1:n.745+251_745+252del
NM_001352921.2:c.745+251_745+252del (SGSH)	NP_001339850.1:n.745+251_745+252del
NM_001352922.2:c.745+251_745+252del (SGSH)	NP_001339851.1:n.745+251_745+252del
NR_148201.2:n.659+251_659+252del (SGSH)
NM_001352921.3:c.745+251_745+252del (SGSH)	NP_001339850.1:n.745+251_745+252del