Canonical Allele Identifier: CA628019271

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 2029499
• ClinVar RCV Id: RCV002880852
• gnomAD v2: 17-78179400-CG-C
• gnomAD v4: 17-80205601-CG-C
• MyVariant Identifiers: chr17:g.78179401del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205606del , CM000679.2:g.80205606del	GRCh38
NC_000017.10:g.78179405del , CM000679.1:g.78179405del	GRCh37
NC_000017.9:g.75794000del	NCBI36
NG_032778.1:g.40615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000571427.2:c.2645del (CARD14)	ENSP00000516501.1:p.Gly882AlafsTer5
ENST00000703566.1:c.*481del (CARD14)	ENSP00000515382.1:n.*481del
ENST00000703567.1:c.*481del (CARD14)	ENSP00000515383.1:n.*481del
ENST00000703568.1:c.*1105del (CARD14)	ENSP00000515384.1:n.*1105del
ENST00000703569.1:n.2846del (CARD14)
ENST00000703570.1:n.1561del (CARD14)
ENST00000703571.1:n.1493del (CARD14)
ENST00000703572.1:n.529del (CARD14)
ENST00000703573.1:n.863del (CARD14)
ENST00000648509.2:c.2645del (CARD14) MANE Select	ENSP00000498071.1:p.Gly882AlafsTer5
ENST00000649277.1:n.1402del (CARD14)
ENST00000650867.1:c.*90del (CARD14)	ENSP00000498570.1:n.*90del
ENST00000651068.1:c.*1004del (CARD14)	ENSP00000498274.1:n.*1004del
ENST00000651672.1:c.2672del (CARD14)	ENSP00000499145.1:p.Gly891AlafsTer5
ENST00000344227.6:c.2645del (CARD14)	ENSP00000344549.2:p.Gly882AlafsTer5
ENST00000573882.5:c.2645del (CARD14)	ENSP00000458715.1:p.Gly882AlafsTer5
ENST00000575500.5:c.*1105del (CARD14)	ENSP00000460883.1:n.*1105del
NM_024110.4:c.2645del (CARD14)	NP_077015.2:p.Gly882AlafsTer5
NR_047566.1:n.2820del (CARD14)
XM_011525212.1:c.2645del (CARD14)	XP_011523514.1:p.Gly882AlafsTer5
XM_011525213.1:c.2645del (CARD14)	XP_011523515.1:p.Gly882AlafsTer5
XM_011525214.1:c.2645del (CARD14)	XP_011523516.1:p.Gly882AlafsTer5
XM_011525215.1:c.2645del (CARD14)	XP_011523517.1:p.Gly882AlafsTer5
XM_011525216.1:c.2645del (CARD14)	XP_011523518.1:p.Gly882AlafsTer5
XM_011525217.1:c.2645del (CARD14)	XP_011523519.1:p.Gly882AlafsTer5
XM_011525218.1:c.2645del (CARD14)	XP_011523520.1:p.Gly882AlafsTer5
XM_011525219.1:c.*90del (CARD14)	XP_011523521.1:n.*90del
NM_001366385.1:c.2645del (CARD14) MANE Select	NP_001353314.1:p.Gly882AlafsTer5
XM_011525218.2:c.2645del (CARD14)	XP_011523520.1:p.Gly882AlafsTer5
XM_024450934.1:c.2642del (CARD14)	XP_024306702.1:p.Gly881AlafsTer5
XM_024450935.1:c.2645del (CARD14)	XP_024306703.1:p.Gly882AlafsTer5
XR_001752586.1:n.1494del (SGSH)
XR_001752587.1:n.1301del (SGSH)
XR_001752588.1:n.1494del (SGSH)
XR_001752589.1:n.1494del (SGSH)
XR_001752590.1:n.1494del (SGSH)
XR_001752591.1:n.1494del (SGSH)
XR_001752592.1:n.1494del (SGSH)
XR_002958057.1:n.2091del (SGSH)
XR_002958065.1:n.2795del (CARD14)
NR_047566.2:n.2782del (CARD14)