Canonical Allele Identifier: CA2798500212

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333872_23333873insGA , CM000675.2:g.23333872_23333873insGA	GRCh38
NC_000013.10:g.23908011_23908012insGA , CM000675.1:g.23908011_23908012insGA	GRCh37
NC_000013.9:g.22806011_22806012insGA	NCBI36
NG_012342.1:g.104830_104831insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19912_2185+19913insTC	ENSP00000508399.1:n.2185+19912_2185+19913insTC
ENST00000682944.1:c.10030_10031insTC	ENSP00000507173.1:p.Asn3344IlefsTer22
ENST00000683210.1:c.2185+19912_2185+19913insTC	ENSP00000506739.1:n.2185+19912_2185+19913insTC
ENST00000683270.1:c.6445+3549_6445+3550insTC	ENSP00000507624.1:n.6445+3549_6445+3550insTC
ENST00000683367.1:c.2177-4389_2177-4388insTC	ENSP00000507780.1:n.2177-4389_2177-4388insTC
ENST00000683489.1:c.2292-3921_2292-3920insTC	ENSP00000508403.1:n.2292-3921_2292-3920insTC
ENST00000683680.1:c.2319-3921_2319-3920insTC	ENSP00000507223.1:n.2319-3921_2319-3920insTC
ENST00000684163.1:c.2204-4389_2204-4388insTC	ENSP00000508262.1:n.2204-4389_2204-4388insTC
ENST00000684196.1:n.4543-4389_4543-4388insTC
ENST00000684325.1:c.2186-12199_2186-12198insTC	ENSP00000508121.1:n.2186-12199_2186-12198insTC
ENST00000684385.1:c.2221-4389_2221-4388insTC	ENSP00000507855.1:n.2221-4389_2221-4388insTC
ENST00000684497.1:c.2186-11229_2186-11228insTC	ENSP00000507057.1:n.2186-11229_2186-11228insTC
ENST00000382292.9:c.10003_10004insTC MANE Select	ENSP00000371729.3:p.Asn3335IlefsTer22
ENST00000423156.2:c.2186-4389_2186-4388insTC	ENSP00000390925.2:n.2186-4389_2186-4388insTC
ENST00000455470.6:c.2432-4389_2432-4388insTC	ENSP00000406565.2:n.2432-4389_2432-4388insTC
ENST00000382292.7:c.10003_10004insTC	ENSP00000371729.3:p.Asn3335IlefsTer22
ENST00000382298.7:c.10003_10004insTC	ENSP00000371735.3:p.Asn3335IlefsTer22
ENST00000402364.1:c.7753_7754insTC	ENSP00000385844.1:p.Asn2585IlefsTer22
ENST00000423156.1:c.1058-4389_1058-4388insTC	ENSP00000390925.1:n.1058-4389_1058-4388insTC
ENST00000455470.5:c.2130-4389_2130-4388insTC
NM_001278055.1:c.9562_9563insTC	NP_001264984.1:p.Asn3188IlefsTer22
NM_014363.5:c.10003_10004insTC	NP_055178.3:p.Asn3335IlefsTer22
XM_005266338.1:c.10030_10031insTC	XP_005266395.1:p.Asn3344IlefsTer22
XM_011535038.1:c.10054_10055insTC	XP_011533340.1:p.Asn3352IlefsTer22
XM_011535039.1:c.10021_10022insTC	XP_011533341.1:p.Asn3341IlefsTer22
XM_005266338.2:c.10030_10031insTC	XP_005266395.1:p.Asn3344IlefsTer22
XM_011535039.2:c.10021_10022insTC	XP_011533341.1:p.Asn3341IlefsTer22
XM_017020539.1:c.9994_9995insTC	XP_016876028.1:p.Asn3332IlefsTer22
XM_024449337.1:c.10030_10031insTC	XP_024305105.1:p.Asn3344IlefsTer22
NM_014363.6:c.10003_10004insTC MANE Select	NP_055178.3:p.Asn3335IlefsTer22
NM_001278055.2:c.9562_9563insTC	NP_001264984.1:p.Asn3188IlefsTer22