Canonical Allele Identifier: CA2277864433

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214835_80214845delinsCTCTCGGCCCT , CM000679.2:g.80214835_80214845delinsCTCTCGGCCCT GRCh38
NC_000017.10:g.78188634_78188644delinsCTCTCGGCCCT , CM000679.1:g.78188634_78188644delinsCTCTCGGCCCT GRCh37
NC_000017.9:g.75803229_75803239delinsCTCTCGGCCCT NCBI36
NG_008229.1:g.10556_10566delinsAGGGCCGAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1031_2845-1021delinsCTCTCGGCCCT (CARD14)
ENST00000326317.11:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) MANE Select ENSP00000314606.6:n.356-80_356-70delinsAGGGCCGAGAG
ENST00000326317.10:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) ENSP00000314606.6:n.356-80_356-70delinsAGGGCCGAGAG
ENST00000570427.1:c.356-62_356-52delinsAGGGCCGAGAG (SGSH) ENSP00000459765.1:n.356-62_356-52delinsAGGGCCGAGAG
ENST00000570923.1:c.391-80_391-70delinsAGGGCCGAGAG (SGSH) ENSP00000458200.1:n.391-80_391-70delinsAGGGCCGAGAG
ENST00000571051.5:n.375+188_375+198delinsAGGGCCGAGAG (SGSH)
ENST00000571675.5:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
ENST00000572208.5:n.373+188_373+198delinsAGGGCCGAGAG (SGSH)
ENST00000573150.5:c.250-80_250-70delinsAGGGCCGAGAG (SGSH) ENSP00000459280.1:n.250-80_250-70delinsAGGGCCGAGAG
ENST00000574505.5:c.301-166_301-156delinsAGGGCCGAGAG (SGSH)
ENST00000575282.5:n.365-80_365-70delinsAGGGCCGAGAG (SGSH)
ENST00000576707.5:c.95-80_95-70delinsAGGGCCGAGAG (SGSH) ENSP00000461128.1:n.95-80_95-70delinsAGGGCCGAGAG
ENST00000576941.5:c.250-517_250-507delinsAGGGCCGAGAG (SGSH) ENSP00000461160.1:n.250-517_250-507delinsAGGGCCGAGAG
NM_000199.3:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) NP_000190.1:n.356-80_356-70delinsAGGGCCGAGAG
XM_005257582.2:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) XP_005257639.1:n.356-80_356-70delinsAGGGCCGAGAG
XM_005257583.3:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) XP_005257640.1:n.356-80_356-70delinsAGGGCCGAGAG
XM_011525126.1:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) XP_011523428.1:n.356-80_356-70delinsAGGGCCGAGAG
XM_011525127.1:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) XP_011523429.1:n.356-80_356-70delinsAGGGCCGAGAG
XR_934532.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
NM_000199.4:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) NP_000190.1:n.356-80_356-70delinsAGGGCCGAGAG
NM_001352921.1:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) NP_001339850.1:n.356-80_356-70delinsAGGGCCGAGAG
NM_001352922.1:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) NP_001339851.1:n.356-80_356-70delinsAGGGCCGAGAG
NR_148201.1:n.337-80_337-70delinsAGGGCCGAGAG (SGSH)
XM_005257583.4:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) XP_005257640.1:n.356-80_356-70delinsAGGGCCGAGAG
XM_017024952.1:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) XP_016880441.1:n.356-80_356-70delinsAGGGCCGAGAG
XR_001752585.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_001752586.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_001752587.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_001752588.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_001752589.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_001752590.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_001752591.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_001752592.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_002958057.1:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
XR_934532.2:n.376-80_376-70delinsAGGGCCGAGAG (SGSH)
NM_000199.5:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) MANE Select NP_000190.1:n.356-80_356-70delinsAGGGCCGAGAG
NM_001352921.2:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) NP_001339850.1:n.356-80_356-70delinsAGGGCCGAGAG
NM_001352922.2:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) NP_001339851.1:n.356-80_356-70delinsAGGGCCGAGAG
NR_148201.2:n.270-80_270-70delinsAGGGCCGAGAG (SGSH)
NM_001352921.3:c.356-80_356-70delinsAGGGCCGAGAG (SGSH) NP_001339850.1:n.356-80_356-70delinsAGGGCCGAGAG