Canonical Allele Identifier: CA2810576360

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210655_80210663del , CM000679.2:g.80210655_80210663del	GRCh38
NC_000017.10:g.78184454_78184462del , CM000679.1:g.78184454_78184462del	GRCh37
NC_000017.9:g.75799049_75799057del	NCBI36
NG_008229.1:g.14741_14749del
NG_032778.1:g.45664_45672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1397_2844+1405del (CARD14)
ENST00000326317.11:c.1301_1309del (SGSH) MANE Select	ENSP00000314606.6:p.Ala434_Trp436del
ENST00000326317.10:c.1301_1309del (SGSH)	ENSP00000314606.6:p.Ala434_Trp436del
ENST00000572257.5:c.551+1411_551+1419del (SGSH)
ENST00000573150.5:c.*511_*519del (SGSH)	ENSP00000459280.1:n.*511_*519del
ENST00000575282.5:n.4184_4192del (SGSH)
ENST00000576856.1:c.555_563del (SGSH)	ENSP00000460720.1:n.555_563del
NM_000199.3:c.1301_1309del (SGSH)	NP_000190.1:p.Ala434_Trp436del
XM_005257583.3:c.949+1411_949+1419del (SGSH)	XP_005257640.1:n.949+1411_949+1419del
NM_000199.4:c.1301_1309del (SGSH)	NP_000190.1:p.Ala434_Trp436del
NM_001352921.1:c.*388_*396del (SGSH)	NP_001339850.1:n.*388_*396del
NM_001352922.1:c.*351_*359del (SGSH)	NP_001339851.1:n.*351_*359del
NR_148201.1:n.1282_1290del (SGSH)
XM_005257583.4:c.949+1411_949+1419del (SGSH)	XP_005257640.1:n.949+1411_949+1419del
XM_017024952.1:c.*1205_*1213del (SGSH)	XP_016880441.1:n.*1205_*1213del
XR_001752585.1:n.1321_1329del (SGSH)
XR_001752586.1:n.969+1411_969+1419del (SGSH)
XR_001752587.1:n.969+1411_969+1419del (SGSH)
XR_001752588.1:n.969+1411_969+1419del (SGSH)
XR_001752589.1:n.969+1411_969+1419del (SGSH)
XR_001752590.1:n.969+1411_969+1419del (SGSH)
XR_001752591.1:n.969+1411_969+1419del (SGSH)
XR_001752592.1:n.969+1411_969+1419del (SGSH)
XR_002958057.1:n.1024+1209_1024+1217del (SGSH)
NM_000199.5:c.1301_1309del (SGSH) MANE Select	NP_000190.1:p.Ala434_Trp436del
NM_001352921.2:c.*388_*396del (SGSH)	NP_001339850.1:n.*388_*396del
NM_001352922.2:c.*351_*359del (SGSH)	NP_001339851.1:n.*351_*359del
NR_148201.2:n.1215_1223del (SGSH)
NM_001352921.3:c.*388_*396del (SGSH)	NP_001339850.1:n.*388_*396del