Canonical Allele Identifier: CA2078633045

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333339_23333340delinsTC , CM000675.2:g.23333339_23333340delinsTC	GRCh38
NC_000013.10:g.23907478_23907479delinsTC , CM000675.1:g.23907478_23907479delinsTC	GRCh37
NC_000013.9:g.22805478_22805479delinsTC	NCBI36
NG_012342.1:g.105363_105364delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20445_2185+20446delinsGA	ENSP00000508399.1:n.2185+20445_2185+20446delinsGA
ENST00000682944.1:c.10563_10564delinsGA	ENSP00000507173.1:p.Glu3521=
ENST00000683210.1:c.2185+20445_2185+20446delinsGA	ENSP00000506739.1:n.2185+20445_2185+20446delinsGA
ENST00000683270.1:c.6446-3856_6446-3855delinsGA	ENSP00000507624.1:n.6446-3856_6446-3855delinsGA
ENST00000683367.1:c.2177-3856_2177-3855delinsGA	ENSP00000507780.1:n.2177-3856_2177-3855delinsGA
ENST00000683489.1:c.2292-3388_2292-3387delinsGA	ENSP00000508403.1:n.2292-3388_2292-3387delinsGA
ENST00000683680.1:c.2319-3388_2319-3387delinsGA	ENSP00000507223.1:n.2319-3388_2319-3387delinsGA
ENST00000684163.1:c.2204-3856_2204-3855delinsGA	ENSP00000508262.1:n.2204-3856_2204-3855delinsGA
ENST00000684196.1:n.4543-3856_4543-3855delinsGA
ENST00000684325.1:c.2186-11666_2186-11665delinsGA	ENSP00000508121.1:n.2186-11666_2186-11665delinsGA
ENST00000684385.1:c.2221-3856_2221-3855delinsGA	ENSP00000507855.1:n.2221-3856_2221-3855delinsGA
ENST00000684497.1:c.2186-10696_2186-10695delinsGA	ENSP00000507057.1:n.2186-10696_2186-10695delinsGA
ENST00000382292.9:c.10536_10537delinsGA MANE Select	ENSP00000371729.3:p.Glu3512=
ENST00000423156.2:c.2186-3856_2186-3855delinsGA	ENSP00000390925.2:n.2186-3856_2186-3855delinsGA
ENST00000455470.6:c.2432-3856_2432-3855delinsGA	ENSP00000406565.2:n.2432-3856_2432-3855delinsGA
ENST00000382292.7:c.10536_10537delinsGA	ENSP00000371729.3:p.Glu3512=
ENST00000382298.7:c.10536_10537delinsGA	ENSP00000371735.3:p.Glu3512=
ENST00000402364.1:c.8286_8287delinsGA	ENSP00000385844.1:p.Glu2762=
ENST00000423156.1:c.1058-3856_1058-3855delinsGA	ENSP00000390925.1:n.1058-3856_1058-3855delinsGA
ENST00000455470.5:c.2130-3856_2130-3855delinsGA
NM_001278055.1:c.10095_10096delinsGA	NP_001264984.1:p.Glu3365=
NM_014363.5:c.10536_10537delinsGA	NP_055178.3:p.Glu3512=
XM_005266338.1:c.10563_10564delinsGA	XP_005266395.1:p.Glu3521=
XM_011535038.1:c.10587_10588delinsGA	XP_011533340.1:p.Glu3529=
XM_011535039.1:c.10554_10555delinsGA	XP_011533341.1:p.Glu3518=
XM_005266338.2:c.10563_10564delinsGA	XP_005266395.1:p.Glu3521=
XM_011535039.2:c.10554_10555delinsGA	XP_011533341.1:p.Glu3518=
XM_017020539.1:c.10527_10528delinsGA	XP_016876028.1:p.Glu3509=
XM_024449337.1:c.10563_10564delinsGA	XP_024305105.1:p.Glu3521=
NM_014363.6:c.10536_10537delinsGA MANE Select	NP_055178.3:p.Glu3512=
NM_001278055.2:c.10095_10096delinsGA	NP_001264984.1:p.Glu3365=