Canonical Allele Identifier: CA2277864019

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214072_80214075delinsTTTC , CM000679.2:g.80214072_80214075delinsTTTC GRCh38
NC_000017.10:g.78187871_78187874delinsTTTC , CM000679.1:g.78187871_78187874delinsTTTC GRCh37
NC_000017.9:g.75802466_75802469delinsTTTC NCBI36
NG_008229.1:g.11326_11329delinsGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1794_2845-1791delinsTTTC (CARD14)
ENST00000326317.11:c.663+97_663+100delinsGAAA (SGSH) MANE Select ENSP00000314606.6:n.663+97_663+100delinsGAAA
ENST00000326317.10:c.663+97_663+100delinsGAAA (SGSH) ENSP00000314606.6:n.663+97_663+100delinsGAAA
ENST00000570923.1:c.698+97_698+100delinsGAAA (SGSH) ENSP00000458200.1:n.698+97_698+100delinsGAAA
ENST00000572208.5:n.530+97_530+100delinsGAAA (SGSH)
ENST00000572257.5:c.265+97_265+100delinsGAAA (SGSH)
ENST00000573150.5:c.557+97_557+100delinsGAAA (SGSH) ENSP00000459280.1:n.557+97_557+100delinsGAAA
ENST00000574505.5:c.522+97_522+100delinsGAAA (SGSH)
ENST00000575282.5:n.769_772delinsGAAA (SGSH)
ENST00000576941.5:c.*79+97_*79+100delinsGAAA (SGSH) ENSP00000461160.1:n.*79+97_*79+100delinsGAAA
NM_000199.3:c.663+97_663+100delinsGAAA (SGSH) NP_000190.1:n.663+97_663+100delinsGAAA
XM_005257582.2:c.663+97_663+100delinsGAAA (SGSH) XP_005257639.1:n.663+97_663+100delinsGAAA
XM_005257583.3:c.663+97_663+100delinsGAAA (SGSH) XP_005257640.1:n.663+97_663+100delinsGAAA
XM_011525126.1:c.663+97_663+100delinsGAAA (SGSH) XP_011523428.1:n.663+97_663+100delinsGAAA
XM_011525127.1:c.663+97_663+100delinsGAAA (SGSH) XP_011523429.1:n.663+97_663+100delinsGAAA
XR_934532.1:n.683+97_683+100delinsGAAA (SGSH)
NM_000199.4:c.663+97_663+100delinsGAAA (SGSH) NP_000190.1:n.663+97_663+100delinsGAAA
NM_001352921.1:c.663+97_663+100delinsGAAA (SGSH) NP_001339850.1:n.663+97_663+100delinsGAAA
NM_001352922.1:c.663+97_663+100delinsGAAA (SGSH) NP_001339851.1:n.663+97_663+100delinsGAAA
NR_148201.1:n.644+97_644+100delinsGAAA (SGSH)
XM_005257583.4:c.663+97_663+100delinsGAAA (SGSH) XP_005257640.1:n.663+97_663+100delinsGAAA
XM_017024952.1:c.663+97_663+100delinsGAAA (SGSH) XP_016880441.1:n.663+97_663+100delinsGAAA
XR_001752585.1:n.683+97_683+100delinsGAAA (SGSH)
XR_001752586.1:n.683+97_683+100delinsGAAA (SGSH)
XR_001752587.1:n.683+97_683+100delinsGAAA (SGSH)
XR_001752588.1:n.683+97_683+100delinsGAAA (SGSH)
XR_001752589.1:n.683+97_683+100delinsGAAA (SGSH)
XR_001752590.1:n.683+97_683+100delinsGAAA (SGSH)
XR_001752591.1:n.683+97_683+100delinsGAAA (SGSH)
XR_001752592.1:n.683+97_683+100delinsGAAA (SGSH)
XR_002958057.1:n.683+97_683+100delinsGAAA (SGSH)
XR_934532.2:n.683+97_683+100delinsGAAA (SGSH)
NM_000199.5:c.663+97_663+100delinsGAAA (SGSH) MANE Select NP_000190.1:n.663+97_663+100delinsGAAA
NM_001352921.2:c.663+97_663+100delinsGAAA (SGSH) NP_001339850.1:n.663+97_663+100delinsGAAA
NM_001352922.2:c.663+97_663+100delinsGAAA (SGSH) NP_001339851.1:n.663+97_663+100delinsGAAA
NR_148201.2:n.577+97_577+100delinsGAAA (SGSH)
NM_001352921.3:c.663+97_663+100delinsGAAA (SGSH) NP_001339850.1:n.663+97_663+100delinsGAAA