Canonical Allele Identifier: CA2078627846

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337654_23337655delinsAT , CM000675.2:g.23337654_23337655delinsAT	GRCh38
NC_000013.10:g.23911793_23911794delinsAT , CM000675.1:g.23911793_23911794delinsAT	GRCh37
NC_000013.9:g.22809793_22809794delinsAT	NCBI36
NG_012342.1:g.101048_101049delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16130_2185+16131delinsAT	ENSP00000508399.1:n.2185+16130_2185+16131delinsAT
ENST00000682944.1:c.6248_6249delinsAT	ENSP00000507173.1:p.Asp2083=
ENST00000683210.1:c.2185+16130_2185+16131delinsAT	ENSP00000506739.1:n.2185+16130_2185+16131delinsAT
ENST00000683270.1:c.6212_6213delinsAT	ENSP00000507624.1:p.Asp2071=
ENST00000683367.1:c.2177-8171_2177-8170delinsAT	ENSP00000507780.1:n.2177-8171_2177-8170delinsAT
ENST00000683489.1:c.2291+3930_2291+3931delinsAT	ENSP00000508403.1:n.2291+3930_2291+3931delinsAT
ENST00000683680.1:c.2318+3930_2318+3931delinsAT	ENSP00000507223.1:n.2318+3930_2318+3931delinsAT
ENST00000684163.1:c.2204-8171_2204-8170delinsAT	ENSP00000508262.1:n.2204-8171_2204-8170delinsAT
ENST00000684196.1:n.4543-8171_4543-8170delinsAT
ENST00000684325.1:c.2186-15981_2186-15980delinsAT	ENSP00000508121.1:n.2186-15981_2186-15980delinsAT
ENST00000684385.1:c.2221-8171_2221-8170delinsAT	ENSP00000507855.1:n.2221-8171_2221-8170delinsAT
ENST00000684497.1:c.2186-15011_2186-15010delinsAT	ENSP00000507057.1:n.2186-15011_2186-15010delinsAT
ENST00000382292.9:c.6221_6222delinsAT MANE Select	ENSP00000371729.3:p.Asp2074=
ENST00000423156.2:c.2186-8171_2186-8170delinsAT	ENSP00000390925.2:n.2186-8171_2186-8170delinsAT
ENST00000455470.6:c.2431+3790_2431+3791delinsAT	ENSP00000406565.2:n.2431+3790_2431+3791delinsAT
ENST00000382292.7:c.6221_6222delinsAT	ENSP00000371729.3:p.Asp2074=
ENST00000382298.7:c.6221_6222delinsAT	ENSP00000371735.3:p.Asp2074=
ENST00000402364.1:c.3971_3972delinsAT	ENSP00000385844.1:p.Asp1324=
ENST00000423156.1:c.1058-8171_1058-8170delinsAT	ENSP00000390925.1:n.1058-8171_1058-8170delinsAT
ENST00000455470.5:c.2129+3790_2129+3791delinsAT
NM_001278055.1:c.5780_5781delinsAT	NP_001264984.1:p.Asp1927=
NM_014363.5:c.6221_6222delinsAT	NP_055178.3:p.Asp2074=
XM_005266338.1:c.6248_6249delinsAT	XP_005266395.1:p.Asp2083=
XM_011535038.1:c.6272_6273delinsAT	XP_011533340.1:p.Asp2091=
XM_011535039.1:c.6239_6240delinsAT	XP_011533341.1:p.Asp2080=
XM_005266338.2:c.6248_6249delinsAT	XP_005266395.1:p.Asp2083=
XM_011535039.2:c.6239_6240delinsAT	XP_011533341.1:p.Asp2080=
XM_017020539.1:c.6212_6213delinsAT	XP_016876028.1:p.Asp2071=
XM_024449337.1:c.6248_6249delinsAT	XP_024305105.1:p.Asp2083=
NM_014363.6:c.6221_6222delinsAT MANE Select	NP_055178.3:p.Asp2074=
NM_001278055.2:c.5780_5781delinsAT	NP_001264984.1:p.Asp1927=