Canonical Allele Identifier: CA2810576327

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210113_80210118del , CM000679.2:g.80210113_80210118del	GRCh38
NC_000017.10:g.78183912_78183917del , CM000679.1:g.78183912_78183917del	GRCh37
NC_000017.9:g.75798507_75798512del	NCBI36
NG_008229.1:g.15283_15288del
NG_032778.1:g.45122_45127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+855_2844+860del (CARD14)
ENST00000326317.11:c.*334_*339del (SGSH) MANE Select	ENSP00000314606.6:n.*334_*339del
ENST00000326317.10:c.*334_*339del (SGSH)	ENSP00000314606.6:n.*334_*339del
ENST00000572257.5:c.551+1953_551+1958del (SGSH)
ENST00000573150.5:c.*1053_*1058del (SGSH)	ENSP00000459280.1:n.*1053_*1058del
ENST00000575282.5:n.4726_4731del (SGSH)
NM_000199.3:c.*334_*339del (SGSH)	NP_000190.1:n.*334_*339del
XM_005257583.3:c.949+1953_949+1958del (SGSH)	XP_005257640.1:n.949+1953_949+1958del
NM_000199.4:c.*334_*339del (SGSH)	NP_000190.1:n.*334_*339del
NM_001352921.1:c.*930_*935del (SGSH)	NP_001339850.1:n.*930_*935del
NM_001352922.1:c.*893_*898del (SGSH)	NP_001339851.1:n.*893_*898del
NR_148201.1:n.1824_1829del (SGSH)
XM_005257583.4:c.949+1953_949+1958del (SGSH)	XP_005257640.1:n.949+1953_949+1958del
XM_017024952.1:c.*1747_*1752del (SGSH)	XP_016880441.1:n.*1747_*1752del
XR_001752585.1:n.1863_1868del (SGSH)
XR_001752586.1:n.969+1953_969+1958del (SGSH)
XR_001752587.1:n.969+1953_969+1958del (SGSH)
XR_001752588.1:n.969+1953_969+1958del (SGSH)
XR_001752589.1:n.969+1953_969+1958del (SGSH)
XR_001752590.1:n.969+1953_969+1958del (SGSH)
XR_001752591.1:n.969+1953_969+1958del (SGSH)
XR_001752592.1:n.969+1953_969+1958del (SGSH)
XR_002958057.1:n.1024+1751_1024+1756del (SGSH)
NM_000199.5:c.*334_*339del (SGSH) MANE Select	NP_000190.1:n.*334_*339del
NM_001352921.2:c.*930_*935del (SGSH)	NP_001339850.1:n.*930_*935del
NM_001352922.2:c.*893_*898del (SGSH)	NP_001339851.1:n.*893_*898del
NR_148201.2:n.1757_1762del (SGSH)
NM_001352921.3:c.*930_*935del (SGSH)	NP_001339850.1:n.*930_*935del