Canonical Allele Identifier: CA2277862063

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210254_80210267delinsGCACATGCTCTGGT , CM000679.2:g.80210254_80210267delinsGCACATGCTCTGGT	GRCh38
NC_000017.10:g.78184053_78184066delinsGCACATGCTCTGGT , CM000679.1:g.78184053_78184066delinsGCACATGCTCTGGT	GRCh37
NC_000017.9:g.75798648_75798661delinsGCACATGCTCTGGT	NCBI36
NG_008229.1:g.15134_15147delinsACCAGAGCATGTGC
NG_032778.1:g.45263_45276delinsGCACATGCTCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+996_2844+1009delinsGCACATGCTCTGGT (CARD14)
ENST00000326317.11:c.*185_*198delinsACCAGAGCATGTGC (SGSH) MANE Select	ENSP00000314606.6:n.*185_*198delinsACCAGAGCATGTGC
ENST00000326317.10:c.*185_*198delinsACCAGAGCATGTGC (SGSH)	ENSP00000314606.6:n.*185_*198delinsACCAGAGCATGTGC
ENST00000572257.5:c.551+1804_551+1817delinsACCAGAGCATGTGC (SGSH)
ENST00000573150.5:c.*904_*917delinsACCAGAGCATGTGC (SGSH)	ENSP00000459280.1:n.*904_*917delinsACCAGAGCATGTGC
ENST00000575282.5:n.4577_4590delinsACCAGAGCATGTGC (SGSH)
NM_000199.3:c.*185_*198delinsACCAGAGCATGTGC (SGSH)	NP_000190.1:n.*185_*198delinsACCAGAGCATGTGC
XM_005257583.3:c.949+1804_949+1817delinsACCAGAGCATGTGC (SGSH)	XP_005257640.1:n.949+1804_949+1817delinsACCAGAGCATGTGC
NM_000199.4:c.*185_*198delinsACCAGAGCATGTGC (SGSH)	NP_000190.1:n.*185_*198delinsACCAGAGCATGTGC
NM_001352921.1:c.*781_*794delinsACCAGAGCATGTGC (SGSH)	NP_001339850.1:n.*781_*794delinsACCAGAGCATGTGC
NM_001352922.1:c.*744_*757delinsACCAGAGCATGTGC (SGSH)	NP_001339851.1:n.*744_*757delinsACCAGAGCATGTGC
NR_148201.1:n.1675_1688delinsACCAGAGCATGTGC (SGSH)
XM_005257583.4:c.949+1804_949+1817delinsACCAGAGCATGTGC (SGSH)	XP_005257640.1:n.949+1804_949+1817delinsACCAGAGCATGTGC
XM_017024952.1:c.*1598_*1611delinsACCAGAGCATGTGC (SGSH)	XP_016880441.1:n.*1598_*1611delinsACCAGAGCATGTGC
XR_001752585.1:n.1714_1727delinsACCAGAGCATGTGC (SGSH)
XR_001752586.1:n.969+1804_969+1817delinsACCAGAGCATGTGC (SGSH)
XR_001752587.1:n.969+1804_969+1817delinsACCAGAGCATGTGC (SGSH)
XR_001752588.1:n.969+1804_969+1817delinsACCAGAGCATGTGC (SGSH)
XR_001752589.1:n.969+1804_969+1817delinsACCAGAGCATGTGC (SGSH)
XR_001752590.1:n.969+1804_969+1817delinsACCAGAGCATGTGC (SGSH)
XR_001752591.1:n.969+1804_969+1817delinsACCAGAGCATGTGC (SGSH)
XR_001752592.1:n.969+1804_969+1817delinsACCAGAGCATGTGC (SGSH)
XR_002958057.1:n.1024+1602_1024+1615delinsACCAGAGCATGTGC (SGSH)
NM_000199.5:c.*185_*198delinsACCAGAGCATGTGC (SGSH) MANE Select	NP_000190.1:n.*185_*198delinsACCAGAGCATGTGC
NM_001352921.2:c.*781_*794delinsACCAGAGCATGTGC (SGSH)	NP_001339850.1:n.*781_*794delinsACCAGAGCATGTGC
NM_001352922.2:c.*744_*757delinsACCAGAGCATGTGC (SGSH)	NP_001339851.1:n.*744_*757delinsACCAGAGCATGTGC
NR_148201.2:n.1608_1621delinsACCAGAGCATGTGC (SGSH)
NM_001352921.3:c.*781_*794delinsACCAGAGCATGTGC (SGSH)	NP_001339850.1:n.*781_*794delinsACCAGAGCATGTGC