Canonical Allele Identifier: CA2078628361

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337953_23337957delinsGTTCT , CM000675.2:g.23337953_23337957delinsGTTCT	GRCh38
NC_000013.10:g.23912092_23912096delinsGTTCT , CM000675.1:g.23912092_23912096delinsGTTCT	GRCh37
NC_000013.9:g.22810092_22810096delinsGTTCT	NCBI36
NG_012342.1:g.100746_100750delinsAGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15828_2185+15832delinsAGAAC	ENSP00000508399.1:n.2185+15828_2185+15832delinsAGAAC
ENST00000682944.1:c.5946_5950delinsAGAAC	ENSP00000507173.1:p.Lys1982=
ENST00000683210.1:c.2185+15828_2185+15832delinsAGAAC	ENSP00000506739.1:n.2185+15828_2185+15832delinsAGAAC
ENST00000683270.1:c.5910_5914delinsAGAAC	ENSP00000507624.1:p.Lys1970=
ENST00000683367.1:c.2177-8473_2177-8469delinsAGAAC	ENSP00000507780.1:n.2177-8473_2177-8469delinsAGAAC
ENST00000683489.1:c.2291+3628_2291+3632delinsAGAAC	ENSP00000508403.1:n.2291+3628_2291+3632delinsAGAAC
ENST00000683680.1:c.2318+3628_2318+3632delinsAGAAC	ENSP00000507223.1:n.2318+3628_2318+3632delinsAGAAC
ENST00000684163.1:c.2204-8473_2204-8469delinsAGAAC	ENSP00000508262.1:n.2204-8473_2204-8469delinsAGAAC
ENST00000684196.1:n.4543-8473_4543-8469delinsAGAAC
ENST00000684325.1:c.2185+15828_2185+15832delinsAGAAC	ENSP00000508121.1:n.2185+15828_2185+15832delinsAGAAC
ENST00000684385.1:c.2221-8473_2221-8469delinsAGAAC	ENSP00000507855.1:n.2221-8473_2221-8469delinsAGAAC
ENST00000684497.1:c.2186-15313_2186-15309delinsAGAAC	ENSP00000507057.1:n.2186-15313_2186-15309delinsAGAAC
ENST00000382292.9:c.5919_5923delinsAGAAC MANE Select	ENSP00000371729.3:p.Lys1973=
ENST00000423156.2:c.2186-8473_2186-8469delinsAGAAC	ENSP00000390925.2:n.2186-8473_2186-8469delinsAGAAC
ENST00000455470.6:c.2431+3488_2431+3492delinsAGAAC	ENSP00000406565.2:n.2431+3488_2431+3492delinsAGAAC
ENST00000382292.7:c.5919_5923delinsAGAAC	ENSP00000371729.3:p.Lys1973=
ENST00000382298.7:c.5919_5923delinsAGAAC	ENSP00000371735.3:p.Lys1973=
ENST00000402364.1:c.3669_3673delinsAGAAC	ENSP00000385844.1:p.Lys1223=
ENST00000423156.1:c.1058-8473_1058-8469delinsAGAAC	ENSP00000390925.1:n.1058-8473_1058-8469delinsAGAAC
ENST00000455470.5:c.2129+3488_2129+3492delinsAGAAC
NM_001278055.1:c.5478_5482delinsAGAAC	NP_001264984.1:p.Lys1826=
NM_014363.5:c.5919_5923delinsAGAAC	NP_055178.3:p.Lys1973=
XM_005266338.1:c.5946_5950delinsAGAAC	XP_005266395.1:p.Lys1982=
XM_011535038.1:c.5970_5974delinsAGAAC	XP_011533340.1:p.Lys1990=
XM_011535039.1:c.5937_5941delinsAGAAC	XP_011533341.1:p.Lys1979=
XM_005266338.2:c.5946_5950delinsAGAAC	XP_005266395.1:p.Lys1982=
XM_011535039.2:c.5937_5941delinsAGAAC	XP_011533341.1:p.Lys1979=
XM_017020539.1:c.5910_5914delinsAGAAC	XP_016876028.1:p.Lys1970=
XM_024449337.1:c.5946_5950delinsAGAAC	XP_024305105.1:p.Lys1982=
NM_014363.6:c.5919_5923delinsAGAAC MANE Select	NP_055178.3:p.Lys1973=
NM_001278055.2:c.5478_5482delinsAGAAC	NP_001264984.1:p.Lys1826=