Canonical Allele Identifier: CA2078628381

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337957_23337960delinsTTTC , CM000675.2:g.23337957_23337960delinsTTTC	GRCh38
NC_000013.10:g.23912096_23912099delinsTTTC , CM000675.1:g.23912096_23912099delinsTTTC	GRCh37
NC_000013.9:g.22810096_22810099delinsTTTC	NCBI36
NG_012342.1:g.100743_100746delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15825_2185+15828delinsGAAA	ENSP00000508399.1:n.2185+15825_2185+15828delinsGAAA
ENST00000682944.1:c.5943_5946delinsGAAA	ENSP00000507173.1:p.Gly1981=
ENST00000683210.1:c.2185+15825_2185+15828delinsGAAA	ENSP00000506739.1:n.2185+15825_2185+15828delinsGAAA
ENST00000683270.1:c.5907_5910delinsGAAA	ENSP00000507624.1:p.Gly1969=
ENST00000683367.1:c.2177-8476_2177-8473delinsGAAA	ENSP00000507780.1:n.2177-8476_2177-8473delinsGAAA
ENST00000683489.1:c.2291+3625_2291+3628delinsGAAA	ENSP00000508403.1:n.2291+3625_2291+3628delinsGAAA
ENST00000683680.1:c.2318+3625_2318+3628delinsGAAA	ENSP00000507223.1:n.2318+3625_2318+3628delinsGAAA
ENST00000684163.1:c.2204-8476_2204-8473delinsGAAA	ENSP00000508262.1:n.2204-8476_2204-8473delinsGAAA
ENST00000684196.1:n.4543-8476_4543-8473delinsGAAA
ENST00000684325.1:c.2185+15825_2185+15828delinsGAAA	ENSP00000508121.1:n.2185+15825_2185+15828delinsGAAA
ENST00000684385.1:c.2221-8476_2221-8473delinsGAAA	ENSP00000507855.1:n.2221-8476_2221-8473delinsGAAA
ENST00000684497.1:c.2186-15316_2186-15313delinsGAAA	ENSP00000507057.1:n.2186-15316_2186-15313delinsGAAA
ENST00000382292.9:c.5916_5919delinsGAAA MANE Select	ENSP00000371729.3:p.Gly1972=
ENST00000423156.2:c.2186-8476_2186-8473delinsGAAA	ENSP00000390925.2:n.2186-8476_2186-8473delinsGAAA
ENST00000455470.6:c.2431+3485_2431+3488delinsGAAA	ENSP00000406565.2:n.2431+3485_2431+3488delinsGAAA
ENST00000382292.7:c.5916_5919delinsGAAA	ENSP00000371729.3:p.Gly1972=
ENST00000382298.7:c.5916_5919delinsGAAA	ENSP00000371735.3:p.Gly1972=
ENST00000402364.1:c.3666_3669delinsGAAA	ENSP00000385844.1:p.Gly1222=
ENST00000423156.1:c.1058-8476_1058-8473delinsGAAA	ENSP00000390925.1:n.1058-8476_1058-8473delinsGAAA
ENST00000455470.5:c.2129+3485_2129+3488delinsGAAA
NM_001278055.1:c.5475_5478delinsGAAA	NP_001264984.1:p.Gly1825=
NM_014363.5:c.5916_5919delinsGAAA	NP_055178.3:p.Gly1972=
XM_005266338.1:c.5943_5946delinsGAAA	XP_005266395.1:p.Gly1981=
XM_011535038.1:c.5967_5970delinsGAAA	XP_011533340.1:p.Gly1989=
XM_011535039.1:c.5934_5937delinsGAAA	XP_011533341.1:p.Gly1978=
XM_005266338.2:c.5943_5946delinsGAAA	XP_005266395.1:p.Gly1981=
XM_011535039.2:c.5934_5937delinsGAAA	XP_011533341.1:p.Gly1978=
XM_017020539.1:c.5907_5910delinsGAAA	XP_016876028.1:p.Gly1969=
XM_024449337.1:c.5943_5946delinsGAAA	XP_024305105.1:p.Gly1981=
NM_014363.6:c.5916_5919delinsGAAA MANE Select	NP_055178.3:p.Gly1972=
NM_001278055.2:c.5475_5478delinsGAAA	NP_001264984.1:p.Gly1825=