Canonical Allele Identifier: CA2549609234

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338016_23338018del , CM000675.2:g.23338016_23338018del	GRCh38
NC_000013.10:g.23912155_23912157del , CM000675.1:g.23912155_23912157del	GRCh37
NC_000013.9:g.22810155_22810157del	NCBI36
NG_012342.1:g.100690_100692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15772_2185+15774del	ENSP00000508399.1:n.2185+15772_2185+15774del
ENST00000682944.1:c.5890_5892del	ENSP00000507173.1:p.Asp1964del
ENST00000683210.1:c.2185+15772_2185+15774del	ENSP00000506739.1:n.2185+15772_2185+15774del
ENST00000683270.1:c.5854_5856del	ENSP00000507624.1:p.Asp1952del
ENST00000683367.1:c.2177-8529_2177-8527del	ENSP00000507780.1:n.2177-8529_2177-8527del
ENST00000683489.1:c.2291+3572_2291+3574del	ENSP00000508403.1:n.2291+3572_2291+3574del
ENST00000683680.1:c.2318+3572_2318+3574del	ENSP00000507223.1:n.2318+3572_2318+3574del
ENST00000684163.1:c.2204-8529_2204-8527del	ENSP00000508262.1:n.2204-8529_2204-8527del
ENST00000684196.1:n.4543-8529_4543-8527del
ENST00000684325.1:c.2185+15772_2185+15774del	ENSP00000508121.1:n.2185+15772_2185+15774del
ENST00000684385.1:c.2221-8529_2221-8527del	ENSP00000507855.1:n.2221-8529_2221-8527del
ENST00000684497.1:c.2186-15369_2186-15367del	ENSP00000507057.1:n.2186-15369_2186-15367del
ENST00000382292.9:c.5863_5865del MANE Select	ENSP00000371729.3:p.Asp1955del
ENST00000423156.2:c.2186-8529_2186-8527del	ENSP00000390925.2:n.2186-8529_2186-8527del
ENST00000455470.6:c.2431+3432_2431+3434del	ENSP00000406565.2:n.2431+3432_2431+3434del
ENST00000382292.7:c.5863_5865del	ENSP00000371729.3:p.Asp1955del
ENST00000382298.7:c.5863_5865del	ENSP00000371735.3:p.Asp1955del
ENST00000402364.1:c.3613_3615del	ENSP00000385844.1:p.Asp1205del
ENST00000423156.1:c.1058-8529_1058-8527del	ENSP00000390925.1:n.1058-8529_1058-8527del
ENST00000455470.5:c.2129+3432_2129+3434del
NM_001278055.1:c.5422_5424del	NP_001264984.1:p.Asp1808del
NM_014363.5:c.5863_5865del	NP_055178.3:p.Asp1955del
XM_005266338.1:c.5890_5892del	XP_005266395.1:p.Asp1964del
XM_011535038.1:c.5914_5916del	XP_011533340.1:p.Asp1972del
XM_011535039.1:c.5881_5883del	XP_011533341.1:p.Asp1961del
XM_005266338.2:c.5890_5892del	XP_005266395.1:p.Asp1964del
XM_011535039.2:c.5881_5883del	XP_011533341.1:p.Asp1961del
XM_017020539.1:c.5854_5856del	XP_016876028.1:p.Asp1952del
XM_024449337.1:c.5890_5892del	XP_024305105.1:p.Asp1964del
NM_014363.6:c.5863_5865del MANE Select	NP_055178.3:p.Asp1955del
NM_001278055.2:c.5422_5424del	NP_001264984.1:p.Asp1808del