Canonical Allele Identifier: CA2640320206

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214776-A-ACCTTCTCCCCTGCCCCCATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214776_80214777insCCTTCTCCCCTGCCCCCATTC , CM000679.2:g.80214776_80214777insCCTTCTCCCCTGCCCCCATTC	GRCh38
NC_000017.10:g.78188575_78188576insCCTTCTCCCCTGCCCCCATTC , CM000679.1:g.78188575_78188576insCCTTCTCCCCTGCCCCCATTC	GRCh37
NC_000017.9:g.75803170_75803171insCCTTCTCCCCTGCCCCCATTC	NCBI36
NG_008229.1:g.10624_10625insGAATGGGGGCAGGGGAGAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1090_2845-1089insCCTTCTCCCCTGCCCCCATTC (CARD14)
ENST00000326317.11:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH) MANE Select	ENSP00000314606.6:n.356-12_356-11insGAATG...
ENST00000326317.10:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	ENSP00000314606.6:n.356-12_356-11insGAATG...
ENST00000570427.1:c.362_363insGAATGGGGGCAGGGGAGAAGG (SGSH)	ENSP00000459765.1:p.Ser121_Ser122insAsnGl...
ENST00000570923.1:c.391-12_391-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	ENSP00000458200.1:n.391-12_391-11insGAATG...
ENST00000571051.5:n.375+256_375+257insGAATGGGGGCAGGGGAGAAGG (SGSH)
ENST00000571675.5:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
ENST00000572208.5:n.373+256_373+257insGAATGGGGGCAGGGGAGAAGG (SGSH)
ENST00000573150.5:c.250-12_250-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	ENSP00000459280.1:n.250-12_250-11insGAATG...
ENST00000574505.5:c.301-98_301-97insGAATGGGGGCAGGGGAGAAGG (SGSH)
ENST00000575282.5:n.365-12_365-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
ENST00000576707.5:c.95-12_95-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	ENSP00000461128.1:n.95-12_95-11insGAATGGG...
ENST00000576941.5:c.250-449_250-448insGAATGGGGGCAGGGGAGAAGG (SGSH)	ENSP00000461160.1:n.250-449_250-448insGAA...
NM_000199.3:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	NP_000190.1:n.356-12_356-11insGAATGGGGGCA...
XM_005257582.2:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	XP_005257639.1:n.356-12_356-11insGAATGGGG...
XM_005257583.3:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	XP_005257640.1:n.356-12_356-11insGAATGGGG...
XM_011525126.1:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	XP_011523428.1:n.356-12_356-11insGAATGGGG...
XM_011525127.1:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	XP_011523429.1:n.356-12_356-11insGAATGGGG...
XR_934532.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
NM_000199.4:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	NP_000190.1:n.356-12_356-11insGAATGGGGGCA...
NM_001352921.1:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	NP_001339850.1:n.356-12_356-11insGAATGGGG...
NM_001352922.1:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	NP_001339851.1:n.356-12_356-11insGAATGGGG...
NR_148201.1:n.337-12_337-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XM_005257583.4:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	XP_005257640.1:n.356-12_356-11insGAATGGGG...
XM_017024952.1:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	XP_016880441.1:n.356-12_356-11insGAATGGGG...
XR_001752585.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_001752586.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_001752587.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_001752588.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_001752589.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_001752590.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_001752591.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_001752592.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_002958057.1:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
XR_934532.2:n.376-12_376-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
NM_000199.5:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH) MANE Select	NP_000190.1:n.356-12_356-11insGAATGGGGGCA...
NM_001352921.2:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	NP_001339850.1:n.356-12_356-11insGAATGGGG...
NM_001352922.2:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	NP_001339851.1:n.356-12_356-11insGAATGGGG...
NR_148201.2:n.270-12_270-11insGAATGGGGGCAGGGGAGAAGG (SGSH)
NM_001352921.3:c.356-12_356-11insGAATGGGGGCAGGGGAGAAGG (SGSH)	NP_001339850.1:n.356-12_356-11insGAATGGGG...