Canonical Allele Identifier: CA2640314580

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80213723-CCGTGACCTAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213724_80213735del , CM000679.2:g.80213724_80213735del	GRCh38
NC_000017.10:g.78187523_78187534del , CM000679.1:g.78187523_78187534del	GRCh37
NC_000017.9:g.75802118_75802129del	NCBI36
NG_008229.1:g.11666_11677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-2142_2845-2131del (CARD14)
ENST00000326317.11:c.745+69_745+80del (SGSH) MANE Select	ENSP00000314606.6:n.745+69_745+80del
ENST00000326317.10:c.745+69_745+80del (SGSH)	ENSP00000314606.6:n.745+69_745+80del
ENST00000570923.1:c.780+69_780+80del (SGSH)	ENSP00000458200.1:n.780+69_780+80del
ENST00000572257.5:c.347+69_347+80del (SGSH)
ENST00000573150.5:c.639+69_639+80del (SGSH)	ENSP00000459280.1:n.639+69_639+80del
ENST00000575282.5:n.1109_1120del (SGSH)
ENST00000576941.5:c.*161+69_*161+80del (SGSH)	ENSP00000461160.1:n.*161+69_*161+80del
NM_000199.3:c.745+69_745+80del (SGSH)	NP_000190.1:n.745+69_745+80del
XM_005257582.2:c.745+69_745+80del (SGSH)	XP_005257639.1:n.745+69_745+80del
XM_005257583.3:c.745+69_745+80del (SGSH)	XP_005257640.1:n.745+69_745+80del
XM_011525126.1:c.745+69_745+80del (SGSH)	XP_011523428.1:n.745+69_745+80del
XM_011525127.1:c.745+69_745+80del (SGSH)	XP_011523429.1:n.745+69_745+80del
XR_934532.1:n.765+69_765+80del (SGSH)
NM_000199.4:c.745+69_745+80del (SGSH)	NP_000190.1:n.745+69_745+80del
NM_001352921.1:c.745+69_745+80del (SGSH)	NP_001339850.1:n.745+69_745+80del
NM_001352922.1:c.745+69_745+80del (SGSH)	NP_001339851.1:n.745+69_745+80del
NR_148201.1:n.726+69_726+80del (SGSH)
XM_005257583.4:c.745+69_745+80del (SGSH)	XP_005257640.1:n.745+69_745+80del
XM_017024952.1:c.745+69_745+80del (SGSH)	XP_016880441.1:n.745+69_745+80del
XR_001752585.1:n.765+69_765+80del (SGSH)
XR_001752586.1:n.765+69_765+80del (SGSH)
XR_001752587.1:n.765+69_765+80del (SGSH)
XR_001752588.1:n.765+69_765+80del (SGSH)
XR_001752589.1:n.765+69_765+80del (SGSH)
XR_001752590.1:n.765+69_765+80del (SGSH)
XR_001752591.1:n.765+69_765+80del (SGSH)
XR_001752592.1:n.765+69_765+80del (SGSH)
XR_002958057.1:n.765+69_765+80del (SGSH)
XR_934532.2:n.765+69_765+80del (SGSH)
NM_000199.5:c.745+69_745+80del (SGSH) MANE Select	NP_000190.1:n.745+69_745+80del
NM_001352921.2:c.745+69_745+80del (SGSH)	NP_001339850.1:n.745+69_745+80del
NM_001352922.2:c.745+69_745+80del (SGSH)	NP_001339851.1:n.745+69_745+80del
NR_148201.2:n.659+69_659+80del (SGSH)
NM_001352921.3:c.745+69_745+80del (SGSH)	NP_001339850.1:n.745+69_745+80del