Canonical Allele Identifier: CA2277862974

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212052_80212056delinsGAGAC , CM000679.2:g.80212052_80212056delinsGAGAC	GRCh38
NC_000017.10:g.78185851_78185855delinsGAGAC , CM000679.1:g.78185851_78185855delinsGAGAC	GRCh37
NC_000017.9:g.75800446_75800450delinsGAGAC	NCBI36
NG_008229.1:g.13345_13349delinsGTCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+2794_2844+2798delinsGAGAC (CARD14)
ENST00000326317.11:c.949+15_949+19delinsGTCTC (SGSH) MANE Select	ENSP00000314606.6:n.949+15_949+19delinsGT...
ENST00000326317.10:c.949+15_949+19delinsGTCTC (SGSH)	ENSP00000314606.6:n.949+15_949+19delinsGT...
ENST00000570923.1:c.*174_*178delinsGTCTC (SGSH)	ENSP00000458200.1:n.*174_*178delinsGTCTC
ENST00000572257.5:c.551+15_551+19delinsGTCTC (SGSH)
ENST00000573150.5:c.*159+15_*159+19delinsGTCTC (SGSH)	ENSP00000459280.1:n.*159+15_*159+19delins...
ENST00000575282.5:n.2788_2792delinsGTCTC (SGSH)
ENST00000576856.1:c.148+15_148+19delinsGTCTC (SGSH)	ENSP00000460720.1:n.148+15_148+19delinsGT...
NM_000199.3:c.949+15_949+19delinsGTCTC (SGSH)	NP_000190.1:n.949+15_949+19delinsGTCTC
XM_005257582.2:c.949+15_949+19delinsGTCTC (SGSH)	XP_005257639.1:n.949+15_949+19delinsGTCTC...
XM_005257583.3:c.949+15_949+19delinsGTCTC (SGSH)	XP_005257640.1:n.949+15_949+19delinsGTCTC...
XM_011525126.1:c.949+15_949+19delinsGTCTC (SGSH)	XP_011523428.1:n.949+15_949+19delinsGTCTC...
XM_011525127.1:c.949+15_949+19delinsGTCTC (SGSH)	XP_011523429.1:n.949+15_949+19delinsGTCTC...
XR_934532.1:n.984_988delinsGTCTC (SGSH)
NM_000199.4:c.949+15_949+19delinsGTCTC (SGSH)	NP_000190.1:n.949+15_949+19delinsGTCTC
NM_001352921.1:c.949+15_949+19delinsGTCTC (SGSH)	NP_001339850.1:n.949+15_949+19delinsGTCTC...
NM_001352922.1:c.949+15_949+19delinsGTCTC (SGSH)	NP_001339851.1:n.949+15_949+19delinsGTCTC...
NR_148201.1:n.930+15_930+19delinsGTCTC (SGSH)
XM_005257583.4:c.949+15_949+19delinsGTCTC (SGSH)	XP_005257640.1:n.949+15_949+19delinsGTCTC...
XM_017024952.1:c.949+15_949+19delinsGTCTC (SGSH)	XP_016880441.1:n.949+15_949+19delinsGTCTC...
XR_001752585.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_001752586.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_001752587.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_001752588.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_001752589.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_001752590.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_001752591.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_001752592.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_002958057.1:n.969+15_969+19delinsGTCTC (SGSH)
XR_934532.2:n.984_988delinsGTCTC (SGSH)
NM_000199.5:c.949+15_949+19delinsGTCTC (SGSH) MANE Select	NP_000190.1:n.949+15_949+19delinsGTCTC
NM_001352921.2:c.949+15_949+19delinsGTCTC (SGSH)	NP_001339850.1:n.949+15_949+19delinsGTCTC...
NM_001352922.2:c.949+15_949+19delinsGTCTC (SGSH)	NP_001339851.1:n.949+15_949+19delinsGTCTC...
NR_148201.2:n.863+15_863+19delinsGTCTC (SGSH)
NM_001352921.3:c.949+15_949+19delinsGTCTC (SGSH)	NP_001339850.1:n.949+15_949+19delinsGTCTC...