Canonical Allele Identifier: CA2622329052

Gene: SACS

Linked Data

• gnomAD v4: 13-23340557-C-CCACTTGCACAACATCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340558_23340574dup , CM000675.2:g.23340558_23340574dup	GRCh38
NC_000013.10:g.23914697_23914713dup , CM000675.1:g.23914697_23914713dup	GRCh37
NC_000013.9:g.22812697_22812713dup	NCBI36
NG_012342.1:g.98129_98145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13211_2185+13227dup	ENSP00000508399.1:n.2185+13211_2185+13227dup
ENST00000682944.1:c.3329_3345dup	ENSP00000507173.1:p.Ala1116ArgfsTer25
ENST00000683210.1:c.2185+13211_2185+13227dup	ENSP00000506739.1:n.2185+13211_2185+13227dup
ENST00000683270.1:c.3293_3309dup	ENSP00000507624.1:p.Ala1104ArgfsTer25
ENST00000683367.1:c.2177-11090_2177-11074dup	ENSP00000507780.1:n.2177-11090_2177-11074dup
ENST00000683489.1:c.2291+1011_2291+1027dup	ENSP00000508403.1:n.2291+1011_2291+1027dup
ENST00000683680.1:c.2318+1011_2318+1027dup	ENSP00000507223.1:n.2318+1011_2318+1027dup
ENST00000684163.1:c.2203+6237_2203+6253dup	ENSP00000508262.1:n.2203+6237_2203+6253dup
ENST00000684196.1:n.4543-11090_4543-11074dup
ENST00000684325.1:c.2185+13211_2185+13227dup	ENSP00000508121.1:n.2185+13211_2185+13227dup
ENST00000684385.1:c.2220+6237_2220+6253dup	ENSP00000507855.1:n.2220+6237_2220+6253dup
ENST00000684497.1:c.2185+13211_2185+13227dup	ENSP00000507057.1:n.2185+13211_2185+13227dup
ENST00000382292.9:c.3302_3318dup MANE Select	ENSP00000371729.3:p.Ala1107ArgfsTer25
ENST00000423156.2:c.2186-11090_2186-11074dup	ENSP00000390925.2:n.2186-11090_2186-11074dup
ENST00000455470.6:c.2431+871_2431+887dup	ENSP00000406565.2:n.2431+871_2431+887dup
ENST00000382292.7:c.3302_3318dup	ENSP00000371729.3:p.Ala1107ArgfsTer25
ENST00000382298.7:c.3302_3318dup	ENSP00000371735.3:p.Ala1107ArgfsTer25
ENST00000402364.1:c.1052_1068dup	ENSP00000385844.1:p.Ala357ArgfsTer25
ENST00000423156.1:c.1058-11090_1058-11074dup	ENSP00000390925.1:n.1058-11090_1058-11074dup
ENST00000455470.5:c.2129+871_2129+887dup
NM_001278055.1:c.2861_2877dup	NP_001264984.1:p.Ala960ArgfsTer25
NM_014363.5:c.3302_3318dup	NP_055178.3:p.Ala1107ArgfsTer25
XM_005266338.1:c.3329_3345dup	XP_005266395.1:p.Ala1116ArgfsTer25
XM_011535038.1:c.3353_3369dup	XP_011533340.1:p.Ala1124ArgfsTer25
XM_011535039.1:c.3320_3336dup	XP_011533341.1:p.Ala1113ArgfsTer25
XM_005266338.2:c.3329_3345dup	XP_005266395.1:p.Ala1116ArgfsTer25
XM_011535039.2:c.3320_3336dup	XP_011533341.1:p.Ala1113ArgfsTer25
XM_017020539.1:c.3293_3309dup	XP_016876028.1:p.Ala1104ArgfsTer25
XM_024449337.1:c.3329_3345dup	XP_024305105.1:p.Ala1116ArgfsTer25
NM_014363.6:c.3302_3318dup MANE Select	NP_055178.3:p.Ala1107ArgfsTer25
NM_001278055.2:c.2861_2877dup	NP_001264984.1:p.Ala960ArgfsTer25