Canonical Allele Identifier: CA2078628201

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337884_23337886delinsTAG , CM000675.2:g.23337884_23337886delinsTAG	GRCh38
NC_000013.10:g.23912023_23912025delinsTAG , CM000675.1:g.23912023_23912025delinsTAG	GRCh37
NC_000013.9:g.22810023_22810025delinsTAG	NCBI36
NG_012342.1:g.100817_100819delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15899_2185+15901delinsCTA	ENSP00000508399.1:n.2185+15899_2185+15901delinsCTA
ENST00000682944.1:c.6017_6019delinsCTA	ENSP00000507173.1:p.Ser2006=
ENST00000683210.1:c.2185+15899_2185+15901delinsCTA	ENSP00000506739.1:n.2185+15899_2185+15901delinsCTA
ENST00000683270.1:c.5981_5983delinsCTA	ENSP00000507624.1:p.Ser1994=
ENST00000683367.1:c.2177-8402_2177-8400delinsCTA	ENSP00000507780.1:n.2177-8402_2177-8400delinsCTA
ENST00000683489.1:c.2291+3699_2291+3701delinsCTA	ENSP00000508403.1:n.2291+3699_2291+3701delinsCTA
ENST00000683680.1:c.2318+3699_2318+3701delinsCTA	ENSP00000507223.1:n.2318+3699_2318+3701delinsCTA
ENST00000684163.1:c.2204-8402_2204-8400delinsCTA	ENSP00000508262.1:n.2204-8402_2204-8400delinsCTA
ENST00000684196.1:n.4543-8402_4543-8400delinsCTA
ENST00000684325.1:c.2185+15899_2185+15901delinsCTA	ENSP00000508121.1:n.2185+15899_2185+15901delinsCTA
ENST00000684385.1:c.2221-8402_2221-8400delinsCTA	ENSP00000507855.1:n.2221-8402_2221-8400delinsCTA
ENST00000684497.1:c.2186-15242_2186-15240delinsCTA	ENSP00000507057.1:n.2186-15242_2186-15240delinsCTA
ENST00000382292.9:c.5990_5992delinsCTA MANE Select	ENSP00000371729.3:p.Ser1997=
ENST00000423156.2:c.2186-8402_2186-8400delinsCTA	ENSP00000390925.2:n.2186-8402_2186-8400delinsCTA
ENST00000455470.6:c.2431+3559_2431+3561delinsCTA	ENSP00000406565.2:n.2431+3559_2431+3561delinsCTA
ENST00000382292.7:c.5990_5992delinsCTA	ENSP00000371729.3:p.Ser1997=
ENST00000382298.7:c.5990_5992delinsCTA	ENSP00000371735.3:p.Ser1997=
ENST00000402364.1:c.3740_3742delinsCTA	ENSP00000385844.1:p.Ser1247=
ENST00000423156.1:c.1058-8402_1058-8400delinsCTA	ENSP00000390925.1:n.1058-8402_1058-8400delinsCTA
ENST00000455470.5:c.2129+3559_2129+3561delinsCTA
NM_001278055.1:c.5549_5551delinsCTA	NP_001264984.1:p.Ser1850=
NM_014363.5:c.5990_5992delinsCTA	NP_055178.3:p.Ser1997=
XM_005266338.1:c.6017_6019delinsCTA	XP_005266395.1:p.Ser2006=
XM_011535038.1:c.6041_6043delinsCTA	XP_011533340.1:p.Ser2014=
XM_011535039.1:c.6008_6010delinsCTA	XP_011533341.1:p.Ser2003=
XM_005266338.2:c.6017_6019delinsCTA	XP_005266395.1:p.Ser2006=
XM_011535039.2:c.6008_6010delinsCTA	XP_011533341.1:p.Ser2003=
XM_017020539.1:c.5981_5983delinsCTA	XP_016876028.1:p.Ser1994=
XM_024449337.1:c.6017_6019delinsCTA	XP_024305105.1:p.Ser2006=
NM_014363.6:c.5990_5992delinsCTA MANE Select	NP_055178.3:p.Ser1997=
NM_001278055.2:c.5549_5551delinsCTA	NP_001264984.1:p.Ser1850=