Canonical Allele Identifier: CA2640322067

Gene: SGSH

Linked Data

• gnomAD v4: 17-80216884-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80216886_80216887dup , CM000679.2:g.80216886_80216887dup	GRCh38
NC_000017.10:g.78190685_78190686dup , CM000679.1:g.78190685_78190686dup	GRCh37
NC_000017.9:g.75805280_75805281dup	NCBI36
NG_008229.1:g.8515_8516dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326317.11:c.249+146_249+147dup MANE Select	ENSP00000314606.6:n.249+146_249+147dup
ENST00000326317.10:c.249+146_249+147dup	ENSP00000314606.6:n.249+146_249+147dup
ENST00000570427.1:c.249+146_249+147dup	ENSP00000459765.1:n.249+146_249+147dup
ENST00000570923.1:c.284+146_284+147dup	ENSP00000458200.1:n.284+146_284+147dup
ENST00000571051.5:n.269+146_269+147dup
ENST00000571075.1:n.415_416dup
ENST00000571675.5:n.269+146_269+147dup
ENST00000572208.5:n.267+146_267+147dup
ENST00000573150.5:c.249+146_249+147dup	ENSP00000459280.1:n.249+146_249+147dup
ENST00000574505.5:c.194+146_194+147dup
ENST00000575188.5:n.269+146_269+147dup
ENST00000575282.5:n.258+146_258+147dup
ENST00000576707.5:c.-13+146_-13+147dup	ENSP00000461128.1:n.-13+146_-13+147dup
ENST00000576941.5:c.249+146_249+147dup	ENSP00000461160.1:n.249+146_249+147dup
NM_000199.3:c.249+146_249+147dup	NP_000190.1:n.249+146_249+147dup
XM_005257582.2:c.249+146_249+147dup	XP_005257639.1:n.249+146_249+147dup
XM_005257583.3:c.249+146_249+147dup	XP_005257640.1:n.249+146_249+147dup
XM_011525126.1:c.249+146_249+147dup	XP_011523428.1:n.249+146_249+147dup
XM_011525127.1:c.249+146_249+147dup	XP_011523429.1:n.249+146_249+147dup
XR_934532.1:n.269+146_269+147dup
NM_000199.4:c.249+146_249+147dup	NP_000190.1:n.249+146_249+147dup
NM_001352921.1:c.249+146_249+147dup	NP_001339850.1:n.249+146_249+147dup
NM_001352922.1:c.249+146_249+147dup	NP_001339851.1:n.249+146_249+147dup
NR_148201.1:n.336+146_336+147dup
XM_005257583.4:c.249+146_249+147dup	XP_005257640.1:n.249+146_249+147dup
XM_017024952.1:c.249+146_249+147dup	XP_016880441.1:n.249+146_249+147dup
XR_001752585.1:n.269+146_269+147dup
XR_001752586.1:n.269+146_269+147dup
XR_001752587.1:n.269+146_269+147dup
XR_001752588.1:n.269+146_269+147dup
XR_001752589.1:n.269+146_269+147dup
XR_001752590.1:n.269+146_269+147dup
XR_001752591.1:n.269+146_269+147dup
XR_001752592.1:n.269+146_269+147dup
XR_002958057.1:n.269+146_269+147dup
XR_934532.2:n.269+146_269+147dup
NM_000199.5:c.249+146_249+147dup MANE Select	NP_000190.1:n.249+146_249+147dup
NM_001352921.2:c.249+146_249+147dup	NP_001339850.1:n.249+146_249+147dup
NM_001352922.2:c.249+146_249+147dup	NP_001339851.1:n.249+146_249+147dup
NR_148201.2:n.269+146_269+147dup
NM_001352921.3:c.249+146_249+147dup	NP_001339850.1:n.249+146_249+147dup