Canonical Allele Identifier: CA2078628345

Gene: SACS

Linked Data

• dbSNP Id: rs1868810557

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337951del , CM000675.2:g.23337951del	GRCh38
NC_000013.10:g.23912090del , CM000675.1:g.23912090del	GRCh37
NC_000013.9:g.22810090del	NCBI36
NG_012342.1:g.100752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15834del	ENSP00000508399.1:n.2185+15834del
ENST00000682944.1:c.5952del	ENSP00000507173.1:p.Thr1985ProfsTer13
ENST00000683210.1:c.2185+15834del	ENSP00000506739.1:n.2185+15834del
ENST00000683270.1:c.5916del	ENSP00000507624.1:p.Thr1973ProfsTer13
ENST00000683367.1:c.2177-8467del	ENSP00000507780.1:n.2177-8467del
ENST00000683489.1:c.2291+3634del	ENSP00000508403.1:n.2291+3634del
ENST00000683680.1:c.2318+3634del	ENSP00000507223.1:n.2318+3634del
ENST00000684163.1:c.2204-8467del	ENSP00000508262.1:n.2204-8467del
ENST00000684196.1:n.4543-8467del
ENST00000684325.1:c.2185+15834del	ENSP00000508121.1:n.2185+15834del
ENST00000684385.1:c.2221-8467del	ENSP00000507855.1:n.2221-8467del
ENST00000684497.1:c.2186-15307del	ENSP00000507057.1:n.2186-15307del
ENST00000382292.9:c.5925del MANE Select	ENSP00000371729.3:p.Thr1976ProfsTer13
ENST00000423156.2:c.2186-8467del	ENSP00000390925.2:n.2186-8467del
ENST00000455470.6:c.2431+3494del	ENSP00000406565.2:n.2431+3494del
ENST00000382292.7:c.5925del	ENSP00000371729.3:p.Thr1976ProfsTer13
ENST00000382298.7:c.5925del	ENSP00000371735.3:p.Thr1976ProfsTer13
ENST00000402364.1:c.3675del	ENSP00000385844.1:p.Thr1226ProfsTer13
ENST00000423156.1:c.1058-8467del	ENSP00000390925.1:n.1058-8467del
ENST00000455470.5:c.2129+3494del
NM_001278055.1:c.5484del	NP_001264984.1:p.Thr1829ProfsTer13
NM_014363.5:c.5925del	NP_055178.3:p.Thr1976ProfsTer13
XM_005266338.1:c.5952del	XP_005266395.1:p.Thr1985ProfsTer13
XM_011535038.1:c.5976del	XP_011533340.1:p.Thr1993ProfsTer13
XM_011535039.1:c.5943del	XP_011533341.1:p.Thr1982ProfsTer13
XM_005266338.2:c.5952del	XP_005266395.1:p.Thr1985ProfsTer13
XM_011535039.2:c.5943del	XP_011533341.1:p.Thr1982ProfsTer13
XM_017020539.1:c.5916del	XP_016876028.1:p.Thr1973ProfsTer13
XM_024449337.1:c.5952del	XP_024305105.1:p.Thr1985ProfsTer13
NM_014363.6:c.5925del MANE Select	NP_055178.3:p.Thr1976ProfsTer13
NM_001278055.2:c.5484del	NP_001264984.1:p.Thr1829ProfsTer13