Canonical Allele Identifier: CA2640308433

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 2884588
• ClinVar RCV Id: RCV003615129
• gnomAD v4: 17-80212056-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212058_80212059del , CM000679.2:g.80212058_80212059del	GRCh38
NC_000017.10:g.78185857_78185858del , CM000679.1:g.78185857_78185858del	GRCh37
NC_000017.9:g.75800452_75800453del	NCBI36
NG_008229.1:g.13343_13344del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+2800_2844+2801del (CARD14)
ENST00000326317.11:c.949+13_949+14del (SGSH) MANE Select	ENSP00000314606.6:n.949+13_949+14del
ENST00000326317.10:c.949+13_949+14del (SGSH)	ENSP00000314606.6:n.949+13_949+14del
ENST00000570923.1:c.*172_*173del (SGSH)	ENSP00000458200.1:n.*172_*173del
ENST00000572257.5:c.551+13_551+14del (SGSH)
ENST00000573150.5:c.*159+13_*159+14del (SGSH)	ENSP00000459280.1:n.*159+13_*159+14del
ENST00000575282.5:n.2786_2787del (SGSH)
ENST00000576856.1:c.148+13_148+14del (SGSH)	ENSP00000460720.1:n.148+13_148+14del
NM_000199.3:c.949+13_949+14del (SGSH)	NP_000190.1:n.949+13_949+14del
XM_005257582.2:c.949+13_949+14del (SGSH)	XP_005257639.1:n.949+13_949+14del
XM_005257583.3:c.949+13_949+14del (SGSH)	XP_005257640.1:n.949+13_949+14del
XM_011525126.1:c.949+13_949+14del (SGSH)	XP_011523428.1:n.949+13_949+14del
XM_011525127.1:c.949+13_949+14del (SGSH)	XP_011523429.1:n.949+13_949+14del
XR_934532.1:n.982_983del (SGSH)
NM_000199.4:c.949+13_949+14del (SGSH)	NP_000190.1:n.949+13_949+14del
NM_001352921.1:c.949+13_949+14del (SGSH)	NP_001339850.1:n.949+13_949+14del
NM_001352922.1:c.949+13_949+14del (SGSH)	NP_001339851.1:n.949+13_949+14del
NR_148201.1:n.930+13_930+14del (SGSH)
XM_005257583.4:c.949+13_949+14del (SGSH)	XP_005257640.1:n.949+13_949+14del
XM_017024952.1:c.949+13_949+14del (SGSH)	XP_016880441.1:n.949+13_949+14del
XR_001752585.1:n.969+13_969+14del (SGSH)
XR_001752586.1:n.969+13_969+14del (SGSH)
XR_001752587.1:n.969+13_969+14del (SGSH)
XR_001752588.1:n.969+13_969+14del (SGSH)
XR_001752589.1:n.969+13_969+14del (SGSH)
XR_001752590.1:n.969+13_969+14del (SGSH)
XR_001752591.1:n.969+13_969+14del (SGSH)
XR_001752592.1:n.969+13_969+14del (SGSH)
XR_002958057.1:n.969+13_969+14del (SGSH)
XR_934532.2:n.982_983del (SGSH)
NM_000199.5:c.949+13_949+14del (SGSH) MANE Select	NP_000190.1:n.949+13_949+14del
NM_001352921.2:c.949+13_949+14del (SGSH)	NP_001339850.1:n.949+13_949+14del
NM_001352922.2:c.949+13_949+14del (SGSH)	NP_001339851.1:n.949+13_949+14del
NR_148201.2:n.863+13_863+14del (SGSH)
NM_001352921.3:c.949+13_949+14del (SGSH)	NP_001339850.1:n.949+13_949+14del