Canonical Allele Identifier: CA2798487830

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333384_23333385insTAT , CM000675.2:g.23333384_23333385insTAT	GRCh38
NC_000013.10:g.23907523_23907524insTAT , CM000675.1:g.23907523_23907524insTAT	GRCh37
NC_000013.9:g.22805523_22805524insTAT	NCBI36
NG_012342.1:g.105320_105321insAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20402_2185+20403insAAT	ENSP00000508399.1:n.2185+20402_2185+20403insAAT
ENST00000682944.1:c.10520_10521insAAT	ENSP00000507173.1:p.Ile3507_Tyr3508insIle
ENST00000683210.1:c.2185+20402_2185+20403insAAT	ENSP00000506739.1:n.2185+20402_2185+20403insAAT
ENST00000683270.1:c.6446-3899_6446-3898insAAT	ENSP00000507624.1:n.6446-3899_6446-3898insAAT
ENST00000683367.1:c.2177-3899_2177-3898insAAT	ENSP00000507780.1:n.2177-3899_2177-3898insAAT
ENST00000683489.1:c.2292-3431_2292-3430insAAT	ENSP00000508403.1:n.2292-3431_2292-3430insAAT
ENST00000683680.1:c.2319-3431_2319-3430insAAT	ENSP00000507223.1:n.2319-3431_2319-3430insAAT
ENST00000684163.1:c.2204-3899_2204-3898insAAT	ENSP00000508262.1:n.2204-3899_2204-3898insAAT
ENST00000684196.1:n.4543-3899_4543-3898insAAT
ENST00000684325.1:c.2186-11709_2186-11708insAAT	ENSP00000508121.1:n.2186-11709_2186-11708insAAT
ENST00000684385.1:c.2221-3899_2221-3898insAAT	ENSP00000507855.1:n.2221-3899_2221-3898insAAT
ENST00000684497.1:c.2186-10739_2186-10738insAAT	ENSP00000507057.1:n.2186-10739_2186-10738insAAT
ENST00000382292.9:c.10493_10494insAAT MANE Select	ENSP00000371729.3:p.Ile3498_Tyr3499insIle
ENST00000423156.2:c.2186-3899_2186-3898insAAT	ENSP00000390925.2:n.2186-3899_2186-3898insAAT
ENST00000455470.6:c.2432-3899_2432-3898insAAT	ENSP00000406565.2:n.2432-3899_2432-3898insAAT
ENST00000382292.7:c.10493_10494insAAT	ENSP00000371729.3:p.Ile3498_Tyr3499insIle
ENST00000382298.7:c.10493_10494insAAT	ENSP00000371735.3:p.Ile3498_Tyr3499insIle
ENST00000402364.1:c.8243_8244insAAT	ENSP00000385844.1:p.Ile2748_Tyr2749insIle
ENST00000423156.1:c.1058-3899_1058-3898insAAT	ENSP00000390925.1:n.1058-3899_1058-3898insAAT
ENST00000455470.5:c.2130-3899_2130-3898insAAT
NM_001278055.1:c.10052_10053insAAT	NP_001264984.1:p.Ile3351_Tyr3352insIle
NM_014363.5:c.10493_10494insAAT	NP_055178.3:p.Ile3498_Tyr3499insIle
XM_005266338.1:c.10520_10521insAAT	XP_005266395.1:p.Ile3507_Tyr3508insIle
XM_011535038.1:c.10544_10545insAAT	XP_011533340.1:p.Ile3515_Tyr3516insIle
XM_011535039.1:c.10511_10512insAAT	XP_011533341.1:p.Ile3504_Tyr3505insIle
XM_005266338.2:c.10520_10521insAAT	XP_005266395.1:p.Ile3507_Tyr3508insIle
XM_011535039.2:c.10511_10512insAAT	XP_011533341.1:p.Ile3504_Tyr3505insIle
XM_017020539.1:c.10484_10485insAAT	XP_016876028.1:p.Ile3495_Tyr3496insIle
XM_024449337.1:c.10520_10521insAAT	XP_024305105.1:p.Ile3507_Tyr3508insIle
NM_014363.6:c.10493_10494insAAT MANE Select	NP_055178.3:p.Ile3498_Tyr3499insIle
NM_001278055.2:c.10052_10053insAAT	NP_001264984.1:p.Ile3351_Tyr3352insIle