Canonical Allele Identifier: CA2994520974

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333950_23333951insCAT , CM000675.2:g.23333950_23333951insCAT	GRCh38
NC_000013.10:g.23908089_23908090insCAT , CM000675.1:g.23908089_23908090insCAT	GRCh37
NC_000013.9:g.22806089_22806090insCAT	NCBI36
NG_012342.1:g.104752_104753insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19834_2185+19835insATG	ENSP00000508399.1:n.2185+19834_2185+19835insATG
ENST00000682944.1:c.9952_9953insATG	ENSP00000507173.1:p.Ile3318delinsAsnVal
ENST00000683210.1:c.2185+19834_2185+19835insATG	ENSP00000506739.1:n.2185+19834_2185+19835insATG
ENST00000683270.1:c.6445+3471_6445+3472insATG	ENSP00000507624.1:n.6445+3471_6445+3472insATG
ENST00000683367.1:c.2177-4467_2177-4466insATG	ENSP00000507780.1:n.2177-4467_2177-4466insATG
ENST00000683489.1:c.2292-3999_2292-3998insATG	ENSP00000508403.1:n.2292-3999_2292-3998insATG
ENST00000683680.1:c.2319-3999_2319-3998insATG	ENSP00000507223.1:n.2319-3999_2319-3998insATG
ENST00000684163.1:c.2204-4467_2204-4466insATG	ENSP00000508262.1:n.2204-4467_2204-4466insATG
ENST00000684196.1:n.4543-4467_4543-4466insATG
ENST00000684325.1:c.2186-12277_2186-12276insATG	ENSP00000508121.1:n.2186-12277_2186-12276insATG
ENST00000684385.1:c.2221-4467_2221-4466insATG	ENSP00000507855.1:n.2221-4467_2221-4466insATG
ENST00000684497.1:c.2186-11307_2186-11306insATG	ENSP00000507057.1:n.2186-11307_2186-11306insATG
ENST00000382292.9:c.9925_9926insATG MANE Select	ENSP00000371729.3:p.Ile3309delinsAsnVal
ENST00000423156.2:c.2186-4467_2186-4466insATG	ENSP00000390925.2:n.2186-4467_2186-4466insATG
ENST00000455470.6:c.2432-4467_2432-4466insATG	ENSP00000406565.2:n.2432-4467_2432-4466insATG
ENST00000382292.7:c.9925_9926insATG	ENSP00000371729.3:p.Ile3309delinsAsnVal
ENST00000382298.7:c.9925_9926insATG	ENSP00000371735.3:p.Ile3309delinsAsnVal
ENST00000402364.1:c.7675_7676insATG	ENSP00000385844.1:p.Ile2559delinsAsnVal
ENST00000423156.1:c.1058-4467_1058-4466insATG	ENSP00000390925.1:n.1058-4467_1058-4466insATG
ENST00000455470.5:c.2130-4467_2130-4466insATG
NM_001278055.1:c.9484_9485insATG	NP_001264984.1:p.Ile3162delinsAsnVal
NM_014363.5:c.9925_9926insATG	NP_055178.3:p.Ile3309delinsAsnVal
XM_005266338.1:c.9952_9953insATG	XP_005266395.1:p.Ile3318delinsAsnVal
XM_011535038.1:c.9976_9977insATG	XP_011533340.1:p.Ile3326delinsAsnVal
XM_011535039.1:c.9943_9944insATG	XP_011533341.1:p.Ile3315delinsAsnVal
XM_005266338.2:c.9952_9953insATG	XP_005266395.1:p.Ile3318delinsAsnVal
XM_011535039.2:c.9943_9944insATG	XP_011533341.1:p.Ile3315delinsAsnVal
XM_017020539.1:c.9916_9917insATG	XP_016876028.1:p.Ile3306delinsAsnVal
XM_024449337.1:c.9952_9953insATG	XP_024305105.1:p.Ile3318delinsAsnVal
NM_014363.6:c.9925_9926insATG MANE Select	NP_055178.3:p.Ile3309delinsAsnVal
NM_001278055.2:c.9484_9485insATG	NP_001264984.1:p.Ile3162delinsAsnVal