Canonical Allele Identifier: CA2640322072

Gene: SGSH

Linked Data

• gnomAD v4: 17-80216887-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80216887_80216888insT , CM000679.2:g.80216887_80216888insT	GRCh38
NC_000017.10:g.78190686_78190687insT , CM000679.1:g.78190686_78190687insT	GRCh37
NC_000017.9:g.75805281_75805282insT	NCBI36
NG_008229.1:g.8513_8514insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326317.11:c.249+144_249+145insA MANE Select	ENSP00000314606.6:n.249+144_249+145insA
ENST00000326317.10:c.249+144_249+145insA	ENSP00000314606.6:n.249+144_249+145insA
ENST00000570427.1:c.249+144_249+145insA	ENSP00000459765.1:n.249+144_249+145insA
ENST00000570923.1:c.284+144_284+145insA	ENSP00000458200.1:n.284+144_284+145insA
ENST00000571051.5:n.269+144_269+145insA
ENST00000571075.1:n.413_414insA
ENST00000571675.5:n.269+144_269+145insA
ENST00000572208.5:n.267+144_267+145insA
ENST00000573150.5:c.249+144_249+145insA	ENSP00000459280.1:n.249+144_249+145insA
ENST00000574505.5:c.194+144_194+145insA
ENST00000575188.5:n.269+144_269+145insA
ENST00000575282.5:n.258+144_258+145insA
ENST00000576707.5:c.-13+144_-13+145insA	ENSP00000461128.1:n.-13+144_-13+145insA
ENST00000576941.5:c.249+144_249+145insA	ENSP00000461160.1:n.249+144_249+145insA
NM_000199.3:c.249+144_249+145insA	NP_000190.1:n.249+144_249+145insA
XM_005257582.2:c.249+144_249+145insA	XP_005257639.1:n.249+144_249+145insA
XM_005257583.3:c.249+144_249+145insA	XP_005257640.1:n.249+144_249+145insA
XM_011525126.1:c.249+144_249+145insA	XP_011523428.1:n.249+144_249+145insA
XM_011525127.1:c.249+144_249+145insA	XP_011523429.1:n.249+144_249+145insA
XR_934532.1:n.269+144_269+145insA
NM_000199.4:c.249+144_249+145insA	NP_000190.1:n.249+144_249+145insA
NM_001352921.1:c.249+144_249+145insA	NP_001339850.1:n.249+144_249+145insA
NM_001352922.1:c.249+144_249+145insA	NP_001339851.1:n.249+144_249+145insA
NR_148201.1:n.336+144_336+145insA
XM_005257583.4:c.249+144_249+145insA	XP_005257640.1:n.249+144_249+145insA
XM_017024952.1:c.249+144_249+145insA	XP_016880441.1:n.249+144_249+145insA
XR_001752585.1:n.269+144_269+145insA
XR_001752586.1:n.269+144_269+145insA
XR_001752587.1:n.269+144_269+145insA
XR_001752588.1:n.269+144_269+145insA
XR_001752589.1:n.269+144_269+145insA
XR_001752590.1:n.269+144_269+145insA
XR_001752591.1:n.269+144_269+145insA
XR_001752592.1:n.269+144_269+145insA
XR_002958057.1:n.269+144_269+145insA
XR_934532.2:n.269+144_269+145insA
NM_000199.5:c.249+144_249+145insA MANE Select	NP_000190.1:n.249+144_249+145insA
NM_001352921.2:c.249+144_249+145insA	NP_001339850.1:n.249+144_249+145insA
NM_001352922.2:c.249+144_249+145insA	NP_001339851.1:n.249+144_249+145insA
NR_148201.2:n.269+144_269+145insA
NM_001352921.3:c.249+144_249+145insA	NP_001339850.1:n.249+144_249+145insA