Canonical Allele Identifier: CA2277864434

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214837_80214846delinsCTCGGCCCTA , CM000679.2:g.80214837_80214846delinsCTCGGCCCTA GRCh38
NC_000017.10:g.78188636_78188645delinsCTCGGCCCTA , CM000679.1:g.78188636_78188645delinsCTCGGCCCTA GRCh37
NC_000017.9:g.75803231_75803240delinsCTCGGCCCTA NCBI36
NG_008229.1:g.10555_10564delinsTAGGGCCGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1029_2845-1020delinsCTCGGCCCTA (CARD14)
ENST00000326317.11:c.356-81_356-72delinsTAGGGCCGAG (SGSH) MANE Select ENSP00000314606.6:n.356-81_356-72delinsTAGGGCCGAG
ENST00000326317.10:c.356-81_356-72delinsTAGGGCCGAG (SGSH) ENSP00000314606.6:n.356-81_356-72delinsTAGGGCCGAG
ENST00000570427.1:c.356-63_356-54delinsTAGGGCCGAG (SGSH) ENSP00000459765.1:n.356-63_356-54delinsTAGGGCCGAG
ENST00000570923.1:c.391-81_391-72delinsTAGGGCCGAG (SGSH) ENSP00000458200.1:n.391-81_391-72delinsTAGGGCCGAG
ENST00000571051.5:n.375+187_375+196delinsTAGGGCCGAG (SGSH)
ENST00000571675.5:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
ENST00000572208.5:n.373+187_373+196delinsTAGGGCCGAG (SGSH)
ENST00000573150.5:c.250-81_250-72delinsTAGGGCCGAG (SGSH) ENSP00000459280.1:n.250-81_250-72delinsTAGGGCCGAG
ENST00000574505.5:c.301-167_301-158delinsTAGGGCCGAG (SGSH)
ENST00000575282.5:n.365-81_365-72delinsTAGGGCCGAG (SGSH)
ENST00000576707.5:c.95-81_95-72delinsTAGGGCCGAG (SGSH) ENSP00000461128.1:n.95-81_95-72delinsTAGGGCCGAG
ENST00000576941.5:c.250-518_250-509delinsTAGGGCCGAG (SGSH) ENSP00000461160.1:n.250-518_250-509delinsTAGGGCCGAG
NM_000199.3:c.356-81_356-72delinsTAGGGCCGAG (SGSH) NP_000190.1:n.356-81_356-72delinsTAGGGCCGAG
XM_005257582.2:c.356-81_356-72delinsTAGGGCCGAG (SGSH) XP_005257639.1:n.356-81_356-72delinsTAGGGCCGAG
XM_005257583.3:c.356-81_356-72delinsTAGGGCCGAG (SGSH) XP_005257640.1:n.356-81_356-72delinsTAGGGCCGAG
XM_011525126.1:c.356-81_356-72delinsTAGGGCCGAG (SGSH) XP_011523428.1:n.356-81_356-72delinsTAGGGCCGAG
XM_011525127.1:c.356-81_356-72delinsTAGGGCCGAG (SGSH) XP_011523429.1:n.356-81_356-72delinsTAGGGCCGAG
XR_934532.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
NM_000199.4:c.356-81_356-72delinsTAGGGCCGAG (SGSH) NP_000190.1:n.356-81_356-72delinsTAGGGCCGAG
NM_001352921.1:c.356-81_356-72delinsTAGGGCCGAG (SGSH) NP_001339850.1:n.356-81_356-72delinsTAGGGCCGAG
NM_001352922.1:c.356-81_356-72delinsTAGGGCCGAG (SGSH) NP_001339851.1:n.356-81_356-72delinsTAGGGCCGAG
NR_148201.1:n.337-81_337-72delinsTAGGGCCGAG (SGSH)
XM_005257583.4:c.356-81_356-72delinsTAGGGCCGAG (SGSH) XP_005257640.1:n.356-81_356-72delinsTAGGGCCGAG
XM_017024952.1:c.356-81_356-72delinsTAGGGCCGAG (SGSH) XP_016880441.1:n.356-81_356-72delinsTAGGGCCGAG
XR_001752585.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_001752586.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_001752587.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_001752588.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_001752589.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_001752590.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_001752591.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_001752592.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_002958057.1:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
XR_934532.2:n.376-81_376-72delinsTAGGGCCGAG (SGSH)
NM_000199.5:c.356-81_356-72delinsTAGGGCCGAG (SGSH) MANE Select NP_000190.1:n.356-81_356-72delinsTAGGGCCGAG
NM_001352921.2:c.356-81_356-72delinsTAGGGCCGAG (SGSH) NP_001339850.1:n.356-81_356-72delinsTAGGGCCGAG
NM_001352922.2:c.356-81_356-72delinsTAGGGCCGAG (SGSH) NP_001339851.1:n.356-81_356-72delinsTAGGGCCGAG
NR_148201.2:n.270-81_270-72delinsTAGGGCCGAG (SGSH)
NM_001352921.3:c.356-81_356-72delinsTAGGGCCGAG (SGSH) NP_001339850.1:n.356-81_356-72delinsTAGGGCCGAG