Canonical Allele Identifier: CA2277863866

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213843_80213856delinsGGTCGGCTCGGGCT , CM000679.2:g.80213843_80213856delinsGGTCGGCTCGGGCT GRCh38
NC_000017.10:g.78187642_78187655delinsGGTCGGCTCGGGCT , CM000679.1:g.78187642_78187655delinsGGTCGGCTCGGGCT GRCh37
NC_000017.9:g.75802237_75802250delinsGGTCGGCTCGGGCT NCBI36
NG_008229.1:g.11545_11558delinsAGCCCGAGCCGACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-2023_2845-2010delinsGGTCGGCTCGGGCT (CARD14)
ENST00000326317.11:c.693_706delinsAGCCCGAGCCGACC (SGSH) MANE Select ENSP00000314606.6:p.Ala231=
ENST00000326317.10:c.693_706delinsAGCCCGAGCCGACC (SGSH) ENSP00000314606.6:p.Ala231=
ENST00000570923.1:c.728_741delinsAGCCCGAGCCGACC (SGSH) ENSP00000458200.1:p.Gln243=
ENST00000572208.5:n.560_573delinsAGCCCGAGCCGACC (SGSH)
ENST00000572257.5:c.295_308delinsAGCCCGAGCCGACC (SGSH)
ENST00000573150.5:c.587_600delinsAGCCCGAGCCGACC (SGSH) ENSP00000459280.1:p.Gln196=
ENST00000574505.5:c.552_565delinsAGCCCGAGCCGACC (SGSH)
ENST00000575282.5:n.988_1001delinsAGCCCGAGCCGACC (SGSH)
ENST00000576941.5:c.*109_*122delinsAGCCCGAGCCGACC (SGSH) ENSP00000461160.1:n.*109_*122delinsAGCCCGAGCCGACC
NM_000199.3:c.693_706delinsAGCCCGAGCCGACC (SGSH) NP_000190.1:p.Ala231=
XM_005257582.2:c.693_706delinsAGCCCGAGCCGACC (SGSH) XP_005257639.1:p.Ala231=
XM_005257583.3:c.693_706delinsAGCCCGAGCCGACC (SGSH) XP_005257640.1:p.Ala231=
XM_011525126.1:c.693_706delinsAGCCCGAGCCGACC (SGSH) XP_011523428.1:p.Ala231=
XM_011525127.1:c.693_706delinsAGCCCGAGCCGACC (SGSH) XP_011523429.1:p.Ala231=
XR_934532.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
NM_000199.4:c.693_706delinsAGCCCGAGCCGACC (SGSH) NP_000190.1:p.Ala231=
NM_001352921.1:c.693_706delinsAGCCCGAGCCGACC (SGSH) NP_001339850.1:p.Ala231=
NM_001352922.1:c.693_706delinsAGCCCGAGCCGACC (SGSH) NP_001339851.1:p.Ala231=
NR_148201.1:n.674_687delinsAGCCCGAGCCGACC (SGSH)
XM_005257583.4:c.693_706delinsAGCCCGAGCCGACC (SGSH) XP_005257640.1:p.Ala231=
XM_017024952.1:c.693_706delinsAGCCCGAGCCGACC (SGSH) XP_016880441.1:p.Ala231=
XR_001752585.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_001752586.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_001752587.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_001752588.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_001752589.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_001752590.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_001752591.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_001752592.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_002958057.1:n.713_726delinsAGCCCGAGCCGACC (SGSH)
XR_934532.2:n.713_726delinsAGCCCGAGCCGACC (SGSH)
NM_000199.5:c.693_706delinsAGCCCGAGCCGACC (SGSH) MANE Select NP_000190.1:p.Ala231=
NM_001352921.2:c.693_706delinsAGCCCGAGCCGACC (SGSH) NP_001339850.1:p.Ala231=
NM_001352922.2:c.693_706delinsAGCCCGAGCCGACC (SGSH) NP_001339851.1:p.Ala231=
NR_148201.2:n.607_620delinsAGCCCGAGCCGACC (SGSH)
NM_001352921.3:c.693_706delinsAGCCCGAGCCGACC (SGSH) NP_001339850.1:p.Ala231=