Canonical Allele Identifier: CA2640320247

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214780-A-ACGTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214780_80214781insCGTGGG , CM000679.2:g.80214780_80214781insCGTGGG	GRCh38
NC_000017.10:g.78188579_78188580insCGTGGG , CM000679.1:g.78188579_78188580insCGTGGG	GRCh37
NC_000017.9:g.75803174_75803175insCGTGGG	NCBI36
NG_008229.1:g.10620_10621insCCCACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1086_2845-1085insCGTGGG (CARD14)
ENST00000326317.11:c.356-16_356-15insCCCACG (SGSH) MANE Select	ENSP00000314606.6:n.356-16_356-15insCCCAC...
ENST00000326317.10:c.356-16_356-15insCCCACG (SGSH)	ENSP00000314606.6:n.356-16_356-15insCCCAC...
ENST00000570427.1:c.358_359insCCCACG (SGSH)	ENSP00000459765.1:p.Leu120delinsProHisVal...
ENST00000570923.1:c.391-16_391-15insCCCACG (SGSH)	ENSP00000458200.1:n.391-16_391-15insCCCAC...
ENST00000571051.5:n.375+252_375+253insCCCACG (SGSH)
ENST00000571675.5:n.376-16_376-15insCCCACG (SGSH)
ENST00000572208.5:n.373+252_373+253insCCCACG (SGSH)
ENST00000573150.5:c.250-16_250-15insCCCACG (SGSH)	ENSP00000459280.1:n.250-16_250-15insCCCAC...
ENST00000574505.5:c.301-102_301-101insCCCACG (SGSH)
ENST00000575282.5:n.365-16_365-15insCCCACG (SGSH)
ENST00000576707.5:c.95-16_95-15insCCCACG (SGSH)	ENSP00000461128.1:n.95-16_95-15insCCCACG
ENST00000576941.5:c.250-453_250-452insCCCACG (SGSH)	ENSP00000461160.1:n.250-453_250-452insCCC...
NM_000199.3:c.356-16_356-15insCCCACG (SGSH)	NP_000190.1:n.356-16_356-15insCCCACG
XM_005257582.2:c.356-16_356-15insCCCACG (SGSH)	XP_005257639.1:n.356-16_356-15insCCCACG
XM_005257583.3:c.356-16_356-15insCCCACG (SGSH)	XP_005257640.1:n.356-16_356-15insCCCACG
XM_011525126.1:c.356-16_356-15insCCCACG (SGSH)	XP_011523428.1:n.356-16_356-15insCCCACG
XM_011525127.1:c.356-16_356-15insCCCACG (SGSH)	XP_011523429.1:n.356-16_356-15insCCCACG
XR_934532.1:n.376-16_376-15insCCCACG (SGSH)
NM_000199.4:c.356-16_356-15insCCCACG (SGSH)	NP_000190.1:n.356-16_356-15insCCCACG
NM_001352921.1:c.356-16_356-15insCCCACG (SGSH)	NP_001339850.1:n.356-16_356-15insCCCACG
NM_001352922.1:c.356-16_356-15insCCCACG (SGSH)	NP_001339851.1:n.356-16_356-15insCCCACG
NR_148201.1:n.337-16_337-15insCCCACG (SGSH)
XM_005257583.4:c.356-16_356-15insCCCACG (SGSH)	XP_005257640.1:n.356-16_356-15insCCCACG
XM_017024952.1:c.356-16_356-15insCCCACG (SGSH)	XP_016880441.1:n.356-16_356-15insCCCACG
XR_001752585.1:n.376-16_376-15insCCCACG (SGSH)
XR_001752586.1:n.376-16_376-15insCCCACG (SGSH)
XR_001752587.1:n.376-16_376-15insCCCACG (SGSH)
XR_001752588.1:n.376-16_376-15insCCCACG (SGSH)
XR_001752589.1:n.376-16_376-15insCCCACG (SGSH)
XR_001752590.1:n.376-16_376-15insCCCACG (SGSH)
XR_001752591.1:n.376-16_376-15insCCCACG (SGSH)
XR_001752592.1:n.376-16_376-15insCCCACG (SGSH)
XR_002958057.1:n.376-16_376-15insCCCACG (SGSH)
XR_934532.2:n.376-16_376-15insCCCACG (SGSH)
NM_000199.5:c.356-16_356-15insCCCACG (SGSH) MANE Select	NP_000190.1:n.356-16_356-15insCCCACG
NM_001352921.2:c.356-16_356-15insCCCACG (SGSH)	NP_001339850.1:n.356-16_356-15insCCCACG
NM_001352922.2:c.356-16_356-15insCCCACG (SGSH)	NP_001339851.1:n.356-16_356-15insCCCACG
NR_148201.2:n.270-16_270-15insCCCACG (SGSH)
NM_001352921.3:c.356-16_356-15insCCCACG (SGSH)	NP_001339850.1:n.356-16_356-15insCCCACG