Canonical Allele Identifier: CA2994520968

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333867_23333868insGCA , CM000675.2:g.23333867_23333868insGCA	GRCh38
NC_000013.10:g.23908006_23908007insGCA , CM000675.1:g.23908006_23908007insGCA	GRCh37
NC_000013.9:g.22806006_22806007insGCA	NCBI36
NG_012342.1:g.104835_104836insTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19917_2185+19918insTGC	ENSP00000508399.1:n.2185+19917_2185+19918insTGC
ENST00000682944.1:c.10035_10036insTGC	ENSP00000507173.1:p.Lys3345_Ile3346insCys
ENST00000683210.1:c.2185+19917_2185+19918insTGC	ENSP00000506739.1:n.2185+19917_2185+19918insTGC
ENST00000683270.1:c.6445+3554_6445+3555insTGC	ENSP00000507624.1:n.6445+3554_6445+3555insTGC
ENST00000683367.1:c.2177-4384_2177-4383insTGC	ENSP00000507780.1:n.2177-4384_2177-4383insTGC
ENST00000683489.1:c.2292-3916_2292-3915insTGC	ENSP00000508403.1:n.2292-3916_2292-3915insTGC
ENST00000683680.1:c.2319-3916_2319-3915insTGC	ENSP00000507223.1:n.2319-3916_2319-3915insTGC
ENST00000684163.1:c.2204-4384_2204-4383insTGC	ENSP00000508262.1:n.2204-4384_2204-4383insTGC
ENST00000684196.1:n.4543-4384_4543-4383insTGC
ENST00000684325.1:c.2186-12194_2186-12193insTGC	ENSP00000508121.1:n.2186-12194_2186-12193insTGC
ENST00000684385.1:c.2221-4384_2221-4383insTGC	ENSP00000507855.1:n.2221-4384_2221-4383insTGC
ENST00000684497.1:c.2186-11224_2186-11223insTGC	ENSP00000507057.1:n.2186-11224_2186-11223insTGC
ENST00000382292.9:c.10008_10009insTGC MANE Select	ENSP00000371729.3:p.Lys3336_Ile3337insCys
ENST00000423156.2:c.2186-4384_2186-4383insTGC	ENSP00000390925.2:n.2186-4384_2186-4383insTGC
ENST00000455470.6:c.2432-4384_2432-4383insTGC	ENSP00000406565.2:n.2432-4384_2432-4383insTGC
ENST00000382292.7:c.10008_10009insTGC	ENSP00000371729.3:p.Lys3336_Ile3337insCys
ENST00000382298.7:c.10008_10009insTGC	ENSP00000371735.3:p.Lys3336_Ile3337insCys
ENST00000402364.1:c.7758_7759insTGC	ENSP00000385844.1:p.Lys2586_Ile2587insCys
ENST00000423156.1:c.1058-4384_1058-4383insTGC	ENSP00000390925.1:n.1058-4384_1058-4383insTGC
ENST00000455470.5:c.2130-4384_2130-4383insTGC
NM_001278055.1:c.9567_9568insTGC	NP_001264984.1:p.Lys3189_Ile3190insCys
NM_014363.5:c.10008_10009insTGC	NP_055178.3:p.Lys3336_Ile3337insCys
XM_005266338.1:c.10035_10036insTGC	XP_005266395.1:p.Lys3345_Ile3346insCys
XM_011535038.1:c.10059_10060insTGC	XP_011533340.1:p.Lys3353_Ile3354insCys
XM_011535039.1:c.10026_10027insTGC	XP_011533341.1:p.Lys3342_Ile3343insCys
XM_005266338.2:c.10035_10036insTGC	XP_005266395.1:p.Lys3345_Ile3346insCys
XM_011535039.2:c.10026_10027insTGC	XP_011533341.1:p.Lys3342_Ile3343insCys
XM_017020539.1:c.9999_10000insTGC	XP_016876028.1:p.Lys3333_Ile3334insCys
XM_024449337.1:c.10035_10036insTGC	XP_024305105.1:p.Lys3345_Ile3346insCys
NM_014363.6:c.10008_10009insTGC MANE Select	NP_055178.3:p.Lys3336_Ile3337insCys
NM_001278055.2:c.9567_9568insTGC	NP_001264984.1:p.Lys3189_Ile3190insCys