Canonical Allele Identifier: CA986727424

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041579933
• gnomAD v3: 17-80210249-GCTGGGCACATGCT-G
• gnomAD v4: 17-80210249-GCTGGGCACATGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210254_80210266del , CM000679.2:g.80210254_80210266del	GRCh38
NC_000017.10:g.78184053_78184065del , CM000679.1:g.78184053_78184065del	GRCh37
NC_000017.9:g.75798648_75798660del	NCBI36
NG_008229.1:g.15139_15151del
NG_032778.1:g.45263_45275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+996_2844+1008del (CARD14)
ENST00000326317.11:c.*190_*202del (SGSH) MANE Select	ENSP00000314606.6:n.*190_*202del
ENST00000326317.10:c.*190_*202del (SGSH)	ENSP00000314606.6:n.*190_*202del
ENST00000572257.5:c.551+1809_551+1821del (SGSH)
ENST00000573150.5:c.*909_*921del (SGSH)	ENSP00000459280.1:n.*909_*921del
ENST00000575282.5:n.4582_4594del (SGSH)
NM_000199.3:c.*190_*202del (SGSH)	NP_000190.1:n.*190_*202del
XM_005257583.3:c.949+1809_949+1821del (SGSH)	XP_005257640.1:n.949+1809_949+1821del
NM_000199.4:c.*190_*202del (SGSH)	NP_000190.1:n.*190_*202del
NM_001352921.1:c.*786_*798del (SGSH)	NP_001339850.1:n.*786_*798del
NM_001352922.1:c.*749_*761del (SGSH)	NP_001339851.1:n.*749_*761del
NR_148201.1:n.1680_1692del (SGSH)
XM_005257583.4:c.949+1809_949+1821del (SGSH)	XP_005257640.1:n.949+1809_949+1821del
XM_017024952.1:c.*1603_*1615del (SGSH)	XP_016880441.1:n.*1603_*1615del
XR_001752585.1:n.1719_1731del (SGSH)
XR_001752586.1:n.969+1809_969+1821del (SGSH)
XR_001752587.1:n.969+1809_969+1821del (SGSH)
XR_001752588.1:n.969+1809_969+1821del (SGSH)
XR_001752589.1:n.969+1809_969+1821del (SGSH)
XR_001752590.1:n.969+1809_969+1821del (SGSH)
XR_001752591.1:n.969+1809_969+1821del (SGSH)
XR_001752592.1:n.969+1809_969+1821del (SGSH)
XR_002958057.1:n.1024+1607_1024+1619del (SGSH)
NM_000199.5:c.*190_*202del (SGSH) MANE Select	NP_000190.1:n.*190_*202del
NM_001352921.2:c.*786_*798del (SGSH)	NP_001339850.1:n.*786_*798del
NM_001352922.2:c.*749_*761del (SGSH)	NP_001339851.1:n.*749_*761del
NR_148201.2:n.1613_1625del (SGSH)
NM_001352921.3:c.*786_*798del (SGSH)	NP_001339850.1:n.*786_*798del