Canonical Allele Identifier: CA2277862049

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210231_80210232delinsGC , CM000679.2:g.80210231_80210232delinsGC	GRCh38
NC_000017.10:g.78184030_78184031delinsGC , CM000679.1:g.78184030_78184031delinsGC	GRCh37
NC_000017.9:g.75798625_75798626delinsGC	NCBI36
NG_008229.1:g.15169_15170delinsGC
NG_032778.1:g.45240_45241delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+973_2844+974delinsGC (CARD14)
ENST00000326317.11:c.*220_*221delinsGC (SGSH) MANE Select	ENSP00000314606.6:n.*220_*221delinsGC
ENST00000326317.10:c.*220_*221delinsGC (SGSH)	ENSP00000314606.6:n.*220_*221delinsGC
ENST00000572257.5:c.551+1839_551+1840delinsGC (SGSH)
ENST00000573150.5:c.*939_*940delinsGC (SGSH)	ENSP00000459280.1:n.*939_*940delinsGC
ENST00000575282.5:n.4612_4613delinsGC (SGSH)
NM_000199.3:c.*220_*221delinsGC (SGSH)	NP_000190.1:n.*220_*221delinsGC
XM_005257583.3:c.949+1839_949+1840delinsGC (SGSH)	XP_005257640.1:n.949+1839_949+1840delinsGC
NM_000199.4:c.*220_*221delinsGC (SGSH)	NP_000190.1:n.*220_*221delinsGC
NM_001352921.1:c.*816_*817delinsGC (SGSH)	NP_001339850.1:n.*816_*817delinsGC
NM_001352922.1:c.*779_*780delinsGC (SGSH)	NP_001339851.1:n.*779_*780delinsGC
NR_148201.1:n.1710_1711delinsGC (SGSH)
XM_005257583.4:c.949+1839_949+1840delinsGC (SGSH)	XP_005257640.1:n.949+1839_949+1840delinsGC
XM_017024952.1:c.*1633_*1634delinsGC (SGSH)	XP_016880441.1:n.*1633_*1634delinsGC
XR_001752585.1:n.1749_1750delinsGC (SGSH)
XR_001752586.1:n.969+1839_969+1840delinsGC (SGSH)
XR_001752587.1:n.969+1839_969+1840delinsGC (SGSH)
XR_001752588.1:n.969+1839_969+1840delinsGC (SGSH)
XR_001752589.1:n.969+1839_969+1840delinsGC (SGSH)
XR_001752590.1:n.969+1839_969+1840delinsGC (SGSH)
XR_001752591.1:n.969+1839_969+1840delinsGC (SGSH)
XR_001752592.1:n.969+1839_969+1840delinsGC (SGSH)
XR_002958057.1:n.1024+1637_1024+1638delinsGC (SGSH)
NM_000199.5:c.*220_*221delinsGC (SGSH) MANE Select	NP_000190.1:n.*220_*221delinsGC
NM_001352921.2:c.*816_*817delinsGC (SGSH)	NP_001339850.1:n.*816_*817delinsGC
NM_001352922.2:c.*779_*780delinsGC (SGSH)	NP_001339851.1:n.*779_*780delinsGC
NR_148201.2:n.1643_1644delinsGC (SGSH)
NM_001352921.3:c.*816_*817delinsGC (SGSH)	NP_001339850.1:n.*816_*817delinsGC