Canonical Allele Identifier: CA2572434542

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332765_23332766insCTG , CM000675.2:g.23332765_23332766insCTG	GRCh38
NC_000013.10:g.23906904_23906905insCTG , CM000675.1:g.23906904_23906905insCTG	GRCh37
NC_000013.9:g.22804904_22804905insCTG	NCBI36
NG_012342.1:g.105937_105938insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20651_2186-20650insCAG	ENSP00000508399.1:n.2186-20651_2186-20650insCAG
ENST00000682944.1:c.11137_11138insCAG	ENSP00000507173.1:p.Cys3713delinsSerGly
ENST00000683210.1:c.2185+21019_2185+21020insCAG	ENSP00000506739.1:n.2185+21019_2185+21020insCAG
ENST00000683270.1:c.6446-3282_6446-3281insCAG	ENSP00000507624.1:n.6446-3282_6446-3281insCAG
ENST00000683367.1:c.2177-3282_2177-3281insCAG	ENSP00000507780.1:n.2177-3282_2177-3281insCAG
ENST00000683489.1:c.2292-2814_2292-2813insCAG	ENSP00000508403.1:n.2292-2814_2292-2813insCAG
ENST00000683680.1:c.2319-2814_2319-2813insCAG	ENSP00000507223.1:n.2319-2814_2319-2813insCAG
ENST00000684163.1:c.2204-3282_2204-3281insCAG	ENSP00000508262.1:n.2204-3282_2204-3281insCAG
ENST00000684196.1:n.4543-3282_4543-3281insCAG
ENST00000684325.1:c.2186-11092_2186-11091insCAG	ENSP00000508121.1:n.2186-11092_2186-11091insCAG
ENST00000684385.1:c.2221-3282_2221-3281insCAG	ENSP00000507855.1:n.2221-3282_2221-3281insCAG
ENST00000684497.1:c.2186-10122_2186-10121insCAG	ENSP00000507057.1:n.2186-10122_2186-10121insCAG
ENST00000382292.9:c.11110_11111insCAG MANE Select	ENSP00000371729.3:p.Cys3704delinsSerGly
ENST00000423156.2:c.2186-3282_2186-3281insCAG	ENSP00000390925.2:n.2186-3282_2186-3281insCAG
ENST00000455470.6:c.2432-3282_2432-3281insCAG	ENSP00000406565.2:n.2432-3282_2432-3281insCAG
ENST00000382292.7:c.11110_11111insCAG	ENSP00000371729.3:p.Cys3704delinsSerGly
ENST00000382298.7:c.11110_11111insCAG	ENSP00000371735.3:p.Cys3704delinsSerGly
ENST00000402364.1:c.8860_8861insCAG	ENSP00000385844.1:p.Cys2954delinsSerGly
ENST00000423156.1:c.1058-3282_1058-3281insCAG	ENSP00000390925.1:n.1058-3282_1058-3281insCAG
ENST00000455470.5:c.2130-3282_2130-3281insCAG
NM_001278055.1:c.10669_10670insCAG	NP_001264984.1:p.Cys3557delinsSerGly
NM_014363.5:c.11110_11111insCAG	NP_055178.3:p.Cys3704delinsSerGly
XM_005266338.1:c.11137_11138insCAG	XP_005266395.1:p.Cys3713delinsSerGly
XM_011535038.1:c.11161_11162insCAG	XP_011533340.1:p.Cys3721delinsSerGly
XM_011535039.1:c.11128_11129insCAG	XP_011533341.1:p.Cys3710delinsSerGly
XM_005266338.2:c.11137_11138insCAG	XP_005266395.1:p.Cys3713delinsSerGly
XM_011535039.2:c.11128_11129insCAG	XP_011533341.1:p.Cys3710delinsSerGly
XM_017020539.1:c.11101_11102insCAG	XP_016876028.1:p.Cys3701delinsSerGly
XM_024449337.1:c.11137_11138insCAG	XP_024305105.1:p.Cys3713delinsSerGly
NM_014363.6:c.11110_11111insCAG MANE Select	NP_055178.3:p.Cys3704delinsSerGly
NM_001278055.2:c.10669_10670insCAG	NP_001264984.1:p.Cys3557delinsSerGly