Canonical Allele Identifier: CA2078623541

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335515_23335516delinsAC , CM000675.2:g.23335515_23335516delinsAC	GRCh38
NC_000013.10:g.23909654_23909655delinsAC , CM000675.1:g.23909654_23909655delinsAC	GRCh37
NC_000013.9:g.22807654_22807655delinsAC	NCBI36
NG_012342.1:g.103187_103188delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18269_2185+18270delinsGT	ENSP00000508399.1:n.2185+18269_2185+18270delinsGT
ENST00000682944.1:c.8387_8388delinsGT	ENSP00000507173.1:p.Ser2796=
ENST00000683210.1:c.2185+18269_2185+18270delinsGT	ENSP00000506739.1:n.2185+18269_2185+18270delinsGT
ENST00000683270.1:c.6445+1906_6445+1907delinsGT	ENSP00000507624.1:n.6445+1906_6445+1907delinsGT
ENST00000683367.1:c.2177-6032_2177-6031delinsGT	ENSP00000507780.1:n.2177-6032_2177-6031delinsGT
ENST00000683489.1:c.2292-5564_2292-5563delinsGT	ENSP00000508403.1:n.2292-5564_2292-5563delinsGT
ENST00000683680.1:c.2319-5564_2319-5563delinsGT	ENSP00000507223.1:n.2319-5564_2319-5563delinsGT
ENST00000684163.1:c.2204-6032_2204-6031delinsGT	ENSP00000508262.1:n.2204-6032_2204-6031delinsGT
ENST00000684196.1:n.4543-6032_4543-6031delinsGT
ENST00000684325.1:c.2186-13842_2186-13841delinsGT	ENSP00000508121.1:n.2186-13842_2186-13841delinsGT
ENST00000684385.1:c.2221-6032_2221-6031delinsGT	ENSP00000507855.1:n.2221-6032_2221-6031delinsGT
ENST00000684497.1:c.2186-12872_2186-12871delinsGT	ENSP00000507057.1:n.2186-12872_2186-12871delinsGT
ENST00000382292.9:c.8360_8361delinsGT MANE Select	ENSP00000371729.3:p.Ser2787=
ENST00000423156.2:c.2186-6032_2186-6031delinsGT	ENSP00000390925.2:n.2186-6032_2186-6031delinsGT
ENST00000455470.6:c.2431+5929_2431+5930delinsGT	ENSP00000406565.2:n.2431+5929_2431+5930delinsGT
ENST00000382292.7:c.8360_8361delinsGT	ENSP00000371729.3:p.Ser2787=
ENST00000382298.7:c.8360_8361delinsGT	ENSP00000371735.3:p.Ser2787=
ENST00000402364.1:c.6110_6111delinsGT	ENSP00000385844.1:p.Ser2037=
ENST00000423156.1:c.1058-6032_1058-6031delinsGT	ENSP00000390925.1:n.1058-6032_1058-6031delinsGT
ENST00000455470.5:c.2129+5929_2129+5930delinsGT
NM_001278055.1:c.7919_7920delinsGT	NP_001264984.1:p.Ser2640=
NM_014363.5:c.8360_8361delinsGT	NP_055178.3:p.Ser2787=
XM_005266338.1:c.8387_8388delinsGT	XP_005266395.1:p.Ser2796=
XM_011535038.1:c.8411_8412delinsGT	XP_011533340.1:p.Ser2804=
XM_011535039.1:c.8378_8379delinsGT	XP_011533341.1:p.Ser2793=
XM_005266338.2:c.8387_8388delinsGT	XP_005266395.1:p.Ser2796=
XM_011535039.2:c.8378_8379delinsGT	XP_011533341.1:p.Ser2793=
XM_017020539.1:c.8351_8352delinsGT	XP_016876028.1:p.Ser2784=
XM_024449337.1:c.8387_8388delinsGT	XP_024305105.1:p.Ser2796=
NM_014363.6:c.8360_8361delinsGT MANE Select	NP_055178.3:p.Ser2787=
NM_001278055.2:c.7919_7920delinsGT	NP_001264984.1:p.Ser2640=