Canonical Allele Identifier: CA2573155033

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1387913
• ClinVar RCV Id: RCV001908249
• dbSNP Id: rs2144692301

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210677_80210682del , CM000679.2:g.80210677_80210682del	GRCh38
NC_000017.10:g.78184476_78184481del , CM000679.1:g.78184476_78184481del	GRCh37
NC_000017.9:g.75799071_75799076del	NCBI36
NG_008229.1:g.14720_14725del
NG_032778.1:g.45686_45691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1419_2844+1424del (CARD14)
ENST00000326317.11:c.1280_1285del (SGSH) MANE Select	ENSP00000314606.6:p.Leu427_Arg428del
ENST00000326317.10:c.1280_1285del (SGSH)	ENSP00000314606.6:p.Leu427_Arg428del
ENST00000572257.5:c.551+1390_551+1395del (SGSH)
ENST00000573150.5:c.*490_*495del (SGSH)	ENSP00000459280.1:n.*490_*495del
ENST00000575282.5:n.4163_4168del (SGSH)
ENST00000576856.1:c.534_539del (SGSH)	ENSP00000460720.1:n.534_539del
NM_000199.3:c.1280_1285del (SGSH)	NP_000190.1:p.Leu427_Arg428del
XM_005257583.3:c.949+1390_949+1395del (SGSH)	XP_005257640.1:n.949+1390_949+1395del
NM_000199.4:c.1280_1285del (SGSH)	NP_000190.1:p.Leu427_Arg428del
NM_001352921.1:c.*367_*372del (SGSH)	NP_001339850.1:n.*367_*372del
NM_001352922.1:c.*330_*335del (SGSH)	NP_001339851.1:n.*330_*335del
NR_148201.1:n.1261_1266del (SGSH)
XM_005257583.4:c.949+1390_949+1395del (SGSH)	XP_005257640.1:n.949+1390_949+1395del
XM_017024952.1:c.*1184_*1189del (SGSH)	XP_016880441.1:n.*1184_*1189del
XR_001752585.1:n.1300_1305del (SGSH)
XR_001752586.1:n.969+1390_969+1395del (SGSH)
XR_001752587.1:n.969+1390_969+1395del (SGSH)
XR_001752588.1:n.969+1390_969+1395del (SGSH)
XR_001752589.1:n.969+1390_969+1395del (SGSH)
XR_001752590.1:n.969+1390_969+1395del (SGSH)
XR_001752591.1:n.969+1390_969+1395del (SGSH)
XR_001752592.1:n.969+1390_969+1395del (SGSH)
XR_002958057.1:n.1024+1188_1024+1193del (SGSH)
NM_000199.5:c.1280_1285del (SGSH) MANE Select	NP_000190.1:p.Leu427_Arg428del
NM_001352921.2:c.*367_*372del (SGSH)	NP_001339850.1:n.*367_*372del
NM_001352922.2:c.*330_*335del (SGSH)	NP_001339851.1:n.*330_*335del
NR_148201.2:n.1194_1199del (SGSH)
NM_001352921.3:c.*367_*372del (SGSH)	NP_001339850.1:n.*367_*372del