Canonical Allele Identifier: CA2277865567

Gene: SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80216866_80216867delinsCT , CM000679.2:g.80216866_80216867delinsCT	GRCh38
NC_000017.10:g.78190665_78190666delinsCT , CM000679.1:g.78190665_78190666delinsCT	GRCh37
NC_000017.9:g.75805260_75805261delinsCT	NCBI36
NG_008229.1:g.8534_8535delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326317.11:c.249+165_249+166delinsAG MANE Select	ENSP00000314606.6:n.249+165_249+166delinsAG
ENST00000326317.10:c.249+165_249+166delinsAG	ENSP00000314606.6:n.249+165_249+166delinsAG
ENST00000570427.1:c.249+165_249+166delinsAG	ENSP00000459765.1:n.249+165_249+166delinsAG
ENST00000570923.1:c.284+165_284+166delinsAG	ENSP00000458200.1:n.284+165_284+166delinsAG
ENST00000571051.5:n.269+165_269+166delinsAG
ENST00000571075.1:n.434_435delinsAG
ENST00000571675.5:n.269+165_269+166delinsAG
ENST00000572208.5:n.267+165_267+166delinsAG
ENST00000573150.5:c.249+165_249+166delinsAG	ENSP00000459280.1:n.249+165_249+166delinsAG
ENST00000574505.5:c.194+165_194+166delinsAG
ENST00000575188.5:n.269+165_269+166delinsAG
ENST00000575282.5:n.258+165_258+166delinsAG
ENST00000576707.5:c.-13+165_-13+166delinsAG	ENSP00000461128.1:n.-13+165_-13+166delinsAG
ENST00000576941.5:c.249+165_249+166delinsAG	ENSP00000461160.1:n.249+165_249+166delinsAG
NM_000199.3:c.249+165_249+166delinsAG	NP_000190.1:n.249+165_249+166delinsAG
XM_005257582.2:c.249+165_249+166delinsAG	XP_005257639.1:n.249+165_249+166delinsAG
XM_005257583.3:c.249+165_249+166delinsAG	XP_005257640.1:n.249+165_249+166delinsAG
XM_011525126.1:c.249+165_249+166delinsAG	XP_011523428.1:n.249+165_249+166delinsAG
XM_011525127.1:c.249+165_249+166delinsAG	XP_011523429.1:n.249+165_249+166delinsAG
XR_934532.1:n.269+165_269+166delinsAG
NM_000199.4:c.249+165_249+166delinsAG	NP_000190.1:n.249+165_249+166delinsAG
NM_001352921.1:c.249+165_249+166delinsAG	NP_001339850.1:n.249+165_249+166delinsAG
NM_001352922.1:c.249+165_249+166delinsAG	NP_001339851.1:n.249+165_249+166delinsAG
NR_148201.1:n.336+165_336+166delinsAG
XM_005257583.4:c.249+165_249+166delinsAG	XP_005257640.1:n.249+165_249+166delinsAG
XM_017024952.1:c.249+165_249+166delinsAG	XP_016880441.1:n.249+165_249+166delinsAG
XR_001752585.1:n.269+165_269+166delinsAG
XR_001752586.1:n.269+165_269+166delinsAG
XR_001752587.1:n.269+165_269+166delinsAG
XR_001752588.1:n.269+165_269+166delinsAG
XR_001752589.1:n.269+165_269+166delinsAG
XR_001752590.1:n.269+165_269+166delinsAG
XR_001752591.1:n.269+165_269+166delinsAG
XR_001752592.1:n.269+165_269+166delinsAG
XR_002958057.1:n.269+165_269+166delinsAG
XR_934532.2:n.269+165_269+166delinsAG
NM_000199.5:c.249+165_249+166delinsAG MANE Select	NP_000190.1:n.249+165_249+166delinsAG
NM_001352921.2:c.249+165_249+166delinsAG	NP_001339850.1:n.249+165_249+166delinsAG
NM_001352922.2:c.249+165_249+166delinsAG	NP_001339851.1:n.249+165_249+166delinsAG
NR_148201.2:n.269+165_269+166delinsAG
NM_001352921.3:c.249+165_249+166delinsAG	NP_001339850.1:n.249+165_249+166delinsAG