Canonical Allele Identifier: CA2508964412

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339826_23339827insG , CM000675.2:g.23339826_23339827insG	GRCh38
NC_000013.10:g.23913965_23913966insG , CM000675.1:g.23913965_23913966insG	GRCh37
NC_000013.9:g.22811965_22811966insG	NCBI36
NG_012342.1:g.98876_98877insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13958_2185+13959insC	ENSP00000508399.1:n.2185+13958_2185+13959insC
ENST00000682944.1:c.4076_4077insC	ENSP00000507173.1:p.Gln1359HisfsTer19
ENST00000683210.1:c.2185+13958_2185+13959insC	ENSP00000506739.1:n.2185+13958_2185+13959insC
ENST00000683270.1:c.4040_4041insC	ENSP00000507624.1:p.Gln1347HisfsTer19
ENST00000683367.1:c.2177-10343_2177-10342insC	ENSP00000507780.1:n.2177-10343_2177-10342insC
ENST00000683489.1:c.2291+1758_2291+1759insC	ENSP00000508403.1:n.2291+1758_2291+1759insC
ENST00000683680.1:c.2318+1758_2318+1759insC	ENSP00000507223.1:n.2318+1758_2318+1759insC
ENST00000684163.1:c.2203+6984_2203+6985insC	ENSP00000508262.1:n.2203+6984_2203+6985insC
ENST00000684196.1:n.4543-10343_4543-10342insC
ENST00000684325.1:c.2185+13958_2185+13959insC	ENSP00000508121.1:n.2185+13958_2185+13959insC
ENST00000684385.1:c.2220+6984_2220+6985insC	ENSP00000507855.1:n.2220+6984_2220+6985insC
ENST00000684497.1:c.2185+13958_2185+13959insC	ENSP00000507057.1:n.2185+13958_2185+13959insC
ENST00000382292.9:c.4049_4050insC MANE Select	ENSP00000371729.3:p.Gln1350HisfsTer19
ENST00000423156.2:c.2186-10343_2186-10342insC	ENSP00000390925.2:n.2186-10343_2186-10342insC
ENST00000455470.6:c.2431+1618_2431+1619insC	ENSP00000406565.2:n.2431+1618_2431+1619insC
ENST00000382292.7:c.4049_4050insC	ENSP00000371729.3:p.Gln1350HisfsTer19
ENST00000382298.7:c.4049_4050insC	ENSP00000371735.3:p.Gln1350HisfsTer19
ENST00000402364.1:c.1799_1800insC	ENSP00000385844.1:p.Gln600HisfsTer19
ENST00000423156.1:c.1058-10343_1058-10342insC	ENSP00000390925.1:n.1058-10343_1058-10342insC
ENST00000455470.5:c.2129+1618_2129+1619insC
NM_001278055.1:c.3608_3609insC	NP_001264984.1:p.Gln1203HisfsTer19
NM_014363.5:c.4049_4050insC	NP_055178.3:p.Gln1350HisfsTer19
XM_005266338.1:c.4076_4077insC	XP_005266395.1:p.Gln1359HisfsTer19
XM_011535038.1:c.4100_4101insC	XP_011533340.1:p.Gln1367HisfsTer19
XM_011535039.1:c.4067_4068insC	XP_011533341.1:p.Gln1356HisfsTer19
XM_005266338.2:c.4076_4077insC	XP_005266395.1:p.Gln1359HisfsTer19
XM_011535039.2:c.4067_4068insC	XP_011533341.1:p.Gln1356HisfsTer19
XM_017020539.1:c.4040_4041insC	XP_016876028.1:p.Gln1347HisfsTer19
XM_024449337.1:c.4076_4077insC	XP_024305105.1:p.Gln1359HisfsTer19
NM_014363.6:c.4049_4050insC MANE Select	NP_055178.3:p.Gln1350HisfsTer19
NM_001278055.2:c.3608_3609insC	NP_001264984.1:p.Gln1203HisfsTer19