Canonical Allele Identifier: CA2832528759

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341661_23341662dup , CM000675.2:g.23341661_23341662dup	GRCh38
NC_000013.10:g.23915800_23915801dup , CM000675.1:g.23915800_23915801dup	GRCh37
NC_000013.9:g.22813800_22813801dup	NCBI36
NG_012342.1:g.97042_97043dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12124_2185+12125dup	ENSP00000508399.1:n.2185+12124_2185+12125dup
ENST00000682944.1:c.2242_2243dup	ENSP00000507173.1:p.Asn748LysfsTer13
ENST00000683210.1:c.2185+12124_2185+12125dup	ENSP00000506739.1:n.2185+12124_2185+12125dup
ENST00000683270.1:c.2206_2207dup	ENSP00000507624.1:p.Asn736LysfsTer13
ENST00000683367.1:c.2176+12124_2176+12125dup	ENSP00000507780.1:n.2176+12124_2176+12125dup
ENST00000683489.1:c.2215_2216dup	ENSP00000508403.1:p.Asn739LysfsTer13
ENST00000683680.1:c.2242_2243dup	ENSP00000507223.1:p.Asn748LysfsTer13
ENST00000684163.1:c.2203+5150_2203+5151dup	ENSP00000508262.1:n.2203+5150_2203+5151dup
ENST00000684196.1:n.4542+12124_4542+12125dup
ENST00000684325.1:c.2185+12124_2185+12125dup	ENSP00000508121.1:n.2185+12124_2185+12125dup
ENST00000684385.1:c.2220+5150_2220+5151dup	ENSP00000507855.1:n.2220+5150_2220+5151dup
ENST00000684497.1:c.2185+12124_2185+12125dup	ENSP00000507057.1:n.2185+12124_2185+12125dup
ENST00000382292.9:c.2215_2216dup MANE Select	ENSP00000371729.3:p.Asn739LysfsTer13
ENST00000423156.2:c.2185+12124_2185+12125dup	ENSP00000390925.2:n.2185+12124_2185+12125dup
ENST00000455470.6:c.2215_2216dup	ENSP00000406565.2:p.Asn739LysfsTer13
ENST00000382292.7:c.2215_2216dup	ENSP00000371729.3:p.Asn739LysfsTer13
ENST00000382298.7:c.2215_2216dup	ENSP00000371735.3:p.Asn739LysfsTer13
ENST00000402364.1:c.-36_-35dup	ENSP00000385844.1:n.-36_-35dup
ENST00000423156.1:c.1057+12124_1057+12125dup	ENSP00000390925.1:n.1057+12124_1057+12125dup
ENST00000455470.5:c.1913_1914dup
NM_001278055.1:c.1774_1775dup	NP_001264984.1:p.Asn592LysfsTer13
NM_014363.5:c.2215_2216dup	NP_055178.3:p.Asn739LysfsTer13
XM_005266338.1:c.2242_2243dup	XP_005266395.1:p.Asn748LysfsTer13
XM_011535038.1:c.2266_2267dup	XP_011533340.1:p.Asn756LysfsTer13
XM_011535039.1:c.2233_2234dup	XP_011533341.1:p.Asn745LysfsTer13
XM_005266338.2:c.2242_2243dup	XP_005266395.1:p.Asn748LysfsTer13
XM_011535039.2:c.2233_2234dup	XP_011533341.1:p.Asn745LysfsTer13
XM_017020539.1:c.2206_2207dup	XP_016876028.1:p.Asn736LysfsTer13
XM_024449337.1:c.2242_2243dup	XP_024305105.1:p.Asn748LysfsTer13
NM_014363.6:c.2215_2216dup MANE Select	NP_055178.3:p.Asn739LysfsTer13
NM_001278055.2:c.1774_1775dup	NP_001264984.1:p.Asn592LysfsTer13