Canonical Allele Identifier: CA2277862061

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210249_80210262delinsGCTGGGCACATGCT , CM000679.2:g.80210249_80210262delinsGCTGGGCACATGCT GRCh38
NC_000017.10:g.78184048_78184061delinsGCTGGGCACATGCT , CM000679.1:g.78184048_78184061delinsGCTGGGCACATGCT GRCh37
NC_000017.9:g.75798643_75798656delinsGCTGGGCACATGCT NCBI36
NG_008229.1:g.15139_15152delinsAGCATGTGCCCAGC
NG_032778.1:g.45258_45271delinsGCTGGGCACATGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+991_2844+1004delinsGCTGGGCACATGCT (CARD14)
ENST00000326317.11:c.*190_*203delinsAGCATGTGCCCAGC (SGSH) MANE Select ENSP00000314606.6:n.*190_*203delinsAGCATGTGCCCAGC
ENST00000326317.10:c.*190_*203delinsAGCATGTGCCCAGC (SGSH) ENSP00000314606.6:n.*190_*203delinsAGCATGTGCCCAGC
ENST00000572257.5:c.551+1809_551+1822delinsAGCATGTGCCCAGC (SGSH)
ENST00000573150.5:c.*909_*922delinsAGCATGTGCCCAGC (SGSH) ENSP00000459280.1:n.*909_*922delinsAGCATGTGCCCAGC
ENST00000575282.5:n.4582_4595delinsAGCATGTGCCCAGC (SGSH)
NM_000199.3:c.*190_*203delinsAGCATGTGCCCAGC (SGSH) NP_000190.1:n.*190_*203delinsAGCATGTGCCCAGC
XM_005257583.3:c.949+1809_949+1822delinsAGCATGTGCCCAGC (SGSH) XP_005257640.1:n.949+1809_949+1822delinsAGCATGTGCCCAGC
NM_000199.4:c.*190_*203delinsAGCATGTGCCCAGC (SGSH) NP_000190.1:n.*190_*203delinsAGCATGTGCCCAGC
NM_001352921.1:c.*786_*799delinsAGCATGTGCCCAGC (SGSH) NP_001339850.1:n.*786_*799delinsAGCATGTGCCCAGC
NM_001352922.1:c.*749_*762delinsAGCATGTGCCCAGC (SGSH) NP_001339851.1:n.*749_*762delinsAGCATGTGCCCAGC
NR_148201.1:n.1680_1693delinsAGCATGTGCCCAGC (SGSH)
XM_005257583.4:c.949+1809_949+1822delinsAGCATGTGCCCAGC (SGSH) XP_005257640.1:n.949+1809_949+1822delinsAGCATGTGCCCAGC
XM_017024952.1:c.*1603_*1616delinsAGCATGTGCCCAGC (SGSH) XP_016880441.1:n.*1603_*1616delinsAGCATGTGCCCAGC
XR_001752585.1:n.1719_1732delinsAGCATGTGCCCAGC (SGSH)
XR_001752586.1:n.969+1809_969+1822delinsAGCATGTGCCCAGC (SGSH)
XR_001752587.1:n.969+1809_969+1822delinsAGCATGTGCCCAGC (SGSH)
XR_001752588.1:n.969+1809_969+1822delinsAGCATGTGCCCAGC (SGSH)
XR_001752589.1:n.969+1809_969+1822delinsAGCATGTGCCCAGC (SGSH)
XR_001752590.1:n.969+1809_969+1822delinsAGCATGTGCCCAGC (SGSH)
XR_001752591.1:n.969+1809_969+1822delinsAGCATGTGCCCAGC (SGSH)
XR_001752592.1:n.969+1809_969+1822delinsAGCATGTGCCCAGC (SGSH)
XR_002958057.1:n.1024+1607_1024+1620delinsAGCATGTGCCCAGC (SGSH)
NM_000199.5:c.*190_*203delinsAGCATGTGCCCAGC (SGSH) MANE Select NP_000190.1:n.*190_*203delinsAGCATGTGCCCAGC
NM_001352921.2:c.*786_*799delinsAGCATGTGCCCAGC (SGSH) NP_001339850.1:n.*786_*799delinsAGCATGTGCCCAGC
NM_001352922.2:c.*749_*762delinsAGCATGTGCCCAGC (SGSH) NP_001339851.1:n.*749_*762delinsAGCATGTGCCCAGC
NR_148201.2:n.1613_1626delinsAGCATGTGCCCAGC (SGSH)
NM_001352921.3:c.*786_*799delinsAGCATGTGCCCAGC (SGSH) NP_001339850.1:n.*786_*799delinsAGCATGTGCCCAGC