Canonical Allele Identifier: CA2277865695
Gene: SGSH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80217066_80217083delinsGGAGAGCAGCTGCTGACC , CM000679.2:g.80217066_80217083delinsGGAGAGCAGCTGCTGACC GRCh38
NC_000017.10:g.78190865_78190882delinsGGAGAGCAGCTGCTGACC , CM000679.1:g.78190865_78190882delinsGGAGAGCAGCTGCTGACC GRCh37
NC_000017.9:g.75805460_75805477delinsGGAGAGCAGCTGCTGACC NCBI36
NG_008229.1:g.8318_8335delinsGGTCAGCAGCTGCTCTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000326317.11:c.198_215delinsGGTCAGCAGCTGCTCTCC MANE Select ENSP00000314606.6:p.Ser66=
ENST00000326317.10:c.198_215delinsGGTCAGCAGCTGCTCTCC ENSP00000314606.6:p.Ser66=
ENST00000570427.1:c.198_215delinsGGTCAGCAGCTGCTCTCC ENSP00000459765.1:p.Ser66=
ENST00000570923.1:c.233_250delinsGGTCAGCAGCTGCTCTCC ENSP00000458200.1:p.Arg78=
ENST00000571051.5:n.218_235delinsGGTCAGCAGCTGCTCTCC
ENST00000571075.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
ENST00000571675.5:n.218_235delinsGGTCAGCAGCTGCTCTCC
ENST00000572208.5:n.216_233delinsGGTCAGCAGCTGCTCTCC
ENST00000573150.5:c.198_215delinsGGTCAGCAGCTGCTCTCC ENSP00000459280.1:p.Ser66=
ENST00000574505.5:c.143_160delinsGGTCAGCAGCTGCTCTCC
ENST00000575188.5:n.218_235delinsGGTCAGCAGCTGCTCTCC
ENST00000575282.5:n.207_224delinsGGTCAGCAGCTGCTCTCC
ENST00000576707.5:c.-64_-47delinsGGTCAGCAGCTGCTCTCC ENSP00000461128.1:n.-64_-47delinsGGTCAGCA...
ENST00000576941.5:c.198_215delinsGGTCAGCAGCTGCTCTCC ENSP00000461160.1:p.Ser66=
NM_000199.3:c.198_215delinsGGTCAGCAGCTGCTCTCC NP_000190.1:p.Ser66=
XM_005257582.2:c.198_215delinsGGTCAGCAGCTGCTCTCC XP_005257639.1:p.Ser66=
XM_005257583.3:c.198_215delinsGGTCAGCAGCTGCTCTCC XP_005257640.1:p.Ser66=
XM_011525126.1:c.198_215delinsGGTCAGCAGCTGCTCTCC XP_011523428.1:p.Ser66=
XM_011525127.1:c.198_215delinsGGTCAGCAGCTGCTCTCC XP_011523429.1:p.Ser66=
XR_934532.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
NM_000199.4:c.198_215delinsGGTCAGCAGCTGCTCTCC NP_000190.1:p.Ser66=
NM_001352921.1:c.198_215delinsGGTCAGCAGCTGCTCTCC NP_001339850.1:p.Ser66=
NM_001352922.1:c.198_215delinsGGTCAGCAGCTGCTCTCC NP_001339851.1:p.Ser66=
NR_148201.1:n.285_302delinsGGTCAGCAGCTGCTCTCC
XM_005257583.4:c.198_215delinsGGTCAGCAGCTGCTCTCC XP_005257640.1:p.Ser66=
XM_017024952.1:c.198_215delinsGGTCAGCAGCTGCTCTCC XP_016880441.1:p.Ser66=
XR_001752585.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_001752586.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_001752587.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_001752588.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_001752589.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_001752590.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_001752591.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_001752592.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_002958057.1:n.218_235delinsGGTCAGCAGCTGCTCTCC
XR_934532.2:n.218_235delinsGGTCAGCAGCTGCTCTCC
NM_000199.5:c.198_215delinsGGTCAGCAGCTGCTCTCC MANE Select NP_000190.1:p.Ser66=
NM_001352921.2:c.198_215delinsGGTCAGCAGCTGCTCTCC NP_001339850.1:p.Ser66=
NM_001352922.2:c.198_215delinsGGTCAGCAGCTGCTCTCC NP_001339851.1:p.Ser66=
NR_148201.2:n.218_235delinsGGTCAGCAGCTGCTCTCC
NM_001352921.3:c.198_215delinsGGTCAGCAGCTGCTCTCC NP_001339850.1:p.Ser66=