Canonical Allele Identifier: CA8817860

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 255518
• ClinVar RCV Id: RCV000247599 ; RCV001640471 ; RCV001800622
• dbSNP Id: rs34029730
• ExAC: 17:78187721 CAG / C
• gnomAD v2: 17-78187721-CAG-C
• gnomAD v3: 17-80213922-CAG-C
• gnomAD v4: 17-80213922-CAG-C
• COSMIC: COSN18740320 ; COSN18740345 ; COSN18740369 ; COSN18740391 ; COSN18740413
• MyVariant Identifiers: chr17:g.78187722_78187723del (hg19) ; chr17:g.78187722_78187723delAG (hg19) ; chr17:g.80213924_80213925del (hg38) ; chr17:g.80213923_80213924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213924_80213925del , CM000679.2:g.80213924_80213925del	GRCh38
NC_000017.10:g.78187723_78187724del , CM000679.1:g.78187723_78187724del	GRCh37
NC_000017.9:g.75802318_75802319del	NCBI36
NG_008229.1:g.11477_11478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1942_2845-1941del (CARD14)
ENST00000326317.11:c.664-39_664-38del (SGSH) MANE Select	ENSP00000314606.6:n.664-39_664-38del
ENST00000326317.10:c.664-39_664-38del (SGSH)	ENSP00000314606.6:n.664-39_664-38del
ENST00000570923.1:c.699-39_699-38del (SGSH)	ENSP00000458200.1:n.699-39_699-38del
ENST00000572208.5:n.531-39_531-38del (SGSH)
ENST00000572257.5:c.266-39_266-38del (SGSH)
ENST00000573150.5:c.558-39_558-38del (SGSH)	ENSP00000459280.1:n.558-39_558-38del
ENST00000574505.5:c.523-39_523-38del (SGSH)
ENST00000575282.5:n.920_921del (SGSH)
ENST00000576941.5:c.*80-39_*80-38del (SGSH)	ENSP00000461160.1:n.*80-39_*80-38del
NM_000199.3:c.664-39_664-38del (SGSH)	NP_000190.1:n.664-39_664-38del
XM_005257582.2:c.664-39_664-38del (SGSH)	XP_005257639.1:n.664-39_664-38del
XM_005257583.3:c.664-39_664-38del (SGSH)	XP_005257640.1:n.664-39_664-38del
XM_011525126.1:c.664-39_664-38del (SGSH)	XP_011523428.1:n.664-39_664-38del
XM_011525127.1:c.664-39_664-38del (SGSH)	XP_011523429.1:n.664-39_664-38del
XR_934532.1:n.684-39_684-38del (SGSH)
NM_000199.4:c.664-39_664-38del (SGSH)	NP_000190.1:n.664-39_664-38del
NM_001352921.1:c.664-39_664-38del (SGSH)	NP_001339850.1:n.664-39_664-38del
NM_001352922.1:c.664-39_664-38del (SGSH)	NP_001339851.1:n.664-39_664-38del
NR_148201.1:n.645-39_645-38del (SGSH)
XM_005257583.4:c.664-39_664-38del (SGSH)	XP_005257640.1:n.664-39_664-38del
XM_017024952.1:c.664-39_664-38del (SGSH)	XP_016880441.1:n.664-39_664-38del
XR_001752585.1:n.684-39_684-38del (SGSH)
XR_001752586.1:n.684-39_684-38del (SGSH)
XR_001752587.1:n.684-39_684-38del (SGSH)
XR_001752588.1:n.684-39_684-38del (SGSH)
XR_001752589.1:n.684-39_684-38del (SGSH)
XR_001752590.1:n.684-39_684-38del (SGSH)
XR_001752591.1:n.684-39_684-38del (SGSH)
XR_001752592.1:n.684-39_684-38del (SGSH)
XR_002958057.1:n.684-39_684-38del (SGSH)
XR_934532.2:n.684-39_684-38del (SGSH)
NM_000199.5:c.664-39_664-38del (SGSH) MANE Select	NP_000190.1:n.664-39_664-38del
NM_001352921.2:c.664-39_664-38del (SGSH)	NP_001339850.1:n.664-39_664-38del
NM_001352922.2:c.664-39_664-38del (SGSH)	NP_001339851.1:n.664-39_664-38del
NR_148201.2:n.578-39_578-38del (SGSH)
NM_001352921.3:c.664-39_664-38del (SGSH)	NP_001339850.1:n.664-39_664-38del