Canonical Allele Identifier: CA2277862340

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1002227
• ClinVar RCV Id: RCV001298622
• dbSNP Id: rs2041613993

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210787_80210792del , CM000679.2:g.80210787_80210792del	GRCh38
NC_000017.10:g.78184586_78184591del , CM000679.1:g.78184586_78184591del	GRCh37
NC_000017.9:g.75799181_75799186del	NCBI36
NG_008229.1:g.14613_14618del
NG_032778.1:g.45796_45801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1529_2844+1534del (CARD14)
ENST00000326317.11:c.1173_1178del (SGSH) MANE Select	ENSP00000314606.6:p.Asn391_Phe392del
ENST00000326317.10:c.1173_1178del (SGSH)	ENSP00000314606.6:p.Asn391_Phe392del
ENST00000572257.5:c.551+1283_551+1288del (SGSH)
ENST00000573150.5:c.*383_*388del (SGSH)	ENSP00000459280.1:n.*383_*388del
ENST00000575282.5:n.4056_4061del (SGSH)
ENST00000576856.1:c.427_432del (SGSH)	ENSP00000460720.1:n.427_432del
NM_000199.3:c.1173_1178del (SGSH)	NP_000190.1:p.Asn391_Phe392del
XM_005257583.3:c.949+1283_949+1288del (SGSH)	XP_005257640.1:n.949+1283_949+1288del
NM_000199.4:c.1173_1178del (SGSH)	NP_000190.1:p.Asn391_Phe392del
NM_001352921.1:c.*260_*265del (SGSH)	NP_001339850.1:n.*260_*265del
NM_001352922.1:c.*223_*228del (SGSH)	NP_001339851.1:n.*223_*228del
NR_148201.1:n.1154_1159del (SGSH)
XM_005257583.4:c.949+1283_949+1288del (SGSH)	XP_005257640.1:n.949+1283_949+1288del
XM_017024952.1:c.*1077_*1082del (SGSH)	XP_016880441.1:n.*1077_*1082del
XR_001752585.1:n.1193_1198del (SGSH)
XR_001752586.1:n.969+1283_969+1288del (SGSH)
XR_001752587.1:n.969+1283_969+1288del (SGSH)
XR_001752588.1:n.969+1283_969+1288del (SGSH)
XR_001752589.1:n.969+1283_969+1288del (SGSH)
XR_001752590.1:n.969+1283_969+1288del (SGSH)
XR_001752591.1:n.969+1283_969+1288del (SGSH)
XR_001752592.1:n.969+1283_969+1288del (SGSH)
XR_002958057.1:n.1024+1081_1024+1086del (SGSH)
NM_000199.5:c.1173_1178del (SGSH) MANE Select	NP_000190.1:p.Asn391_Phe392del
NM_001352921.2:c.*260_*265del (SGSH)	NP_001339850.1:n.*260_*265del
NM_001352922.2:c.*223_*228del (SGSH)	NP_001339851.1:n.*223_*228del
NR_148201.2:n.1087_1092del (SGSH)
NM_001352921.3:c.*260_*265del (SGSH)	NP_001339850.1:n.*260_*265del