Canonical Allele Identifier: CA2078627774

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337574_23337576delinsGAA , CM000675.2:g.23337574_23337576delinsGAA	GRCh38
NC_000013.10:g.23911713_23911715delinsGAA , CM000675.1:g.23911713_23911715delinsGAA	GRCh37
NC_000013.9:g.22809713_22809715delinsGAA	NCBI36
NG_012342.1:g.101127_101129delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16209_2185+16211delinsTTC	ENSP00000508399.1:n.2185+16209_2185+16211delinsTTC
ENST00000682944.1:c.6327_6329delinsTTC	ENSP00000507173.1:p.Cys2109=
ENST00000683210.1:c.2185+16209_2185+16211delinsTTC	ENSP00000506739.1:n.2185+16209_2185+16211delinsTTC
ENST00000683270.1:c.6291_6293delinsTTC	ENSP00000507624.1:p.Cys2097=
ENST00000683367.1:c.2177-8092_2177-8090delinsTTC	ENSP00000507780.1:n.2177-8092_2177-8090delinsTTC
ENST00000683489.1:c.2291+4009_2291+4011delinsTTC	ENSP00000508403.1:n.2291+4009_2291+4011delinsTTC
ENST00000683680.1:c.2318+4009_2318+4011delinsTTC	ENSP00000507223.1:n.2318+4009_2318+4011delinsTTC
ENST00000684163.1:c.2204-8092_2204-8090delinsTTC	ENSP00000508262.1:n.2204-8092_2204-8090delinsTTC
ENST00000684196.1:n.4543-8092_4543-8090delinsTTC
ENST00000684325.1:c.2186-15902_2186-15900delinsTTC	ENSP00000508121.1:n.2186-15902_2186-15900delinsTTC
ENST00000684385.1:c.2221-8092_2221-8090delinsTTC	ENSP00000507855.1:n.2221-8092_2221-8090delinsTTC
ENST00000684497.1:c.2186-14932_2186-14930delinsTTC	ENSP00000507057.1:n.2186-14932_2186-14930delinsTTC
ENST00000382292.9:c.6300_6302delinsTTC MANE Select	ENSP00000371729.3:p.Cys2100=
ENST00000423156.2:c.2186-8092_2186-8090delinsTTC	ENSP00000390925.2:n.2186-8092_2186-8090delinsTTC
ENST00000455470.6:c.2431+3869_2431+3871delinsTTC	ENSP00000406565.2:n.2431+3869_2431+3871delinsTTC
ENST00000382292.7:c.6300_6302delinsTTC	ENSP00000371729.3:p.Cys2100=
ENST00000382298.7:c.6300_6302delinsTTC	ENSP00000371735.3:p.Cys2100=
ENST00000402364.1:c.4050_4052delinsTTC	ENSP00000385844.1:p.Cys1350=
ENST00000423156.1:c.1058-8092_1058-8090delinsTTC	ENSP00000390925.1:n.1058-8092_1058-8090delinsTTC
ENST00000455470.5:c.2129+3869_2129+3871delinsTTC
NM_001278055.1:c.5859_5861delinsTTC	NP_001264984.1:p.Cys1953=
NM_014363.5:c.6300_6302delinsTTC	NP_055178.3:p.Cys2100=
XM_005266338.1:c.6327_6329delinsTTC	XP_005266395.1:p.Cys2109=
XM_011535038.1:c.6351_6353delinsTTC	XP_011533340.1:p.Cys2117=
XM_011535039.1:c.6318_6320delinsTTC	XP_011533341.1:p.Cys2106=
XM_005266338.2:c.6327_6329delinsTTC	XP_005266395.1:p.Cys2109=
XM_011535039.2:c.6318_6320delinsTTC	XP_011533341.1:p.Cys2106=
XM_017020539.1:c.6291_6293delinsTTC	XP_016876028.1:p.Cys2097=
XM_024449337.1:c.6327_6329delinsTTC	XP_024305105.1:p.Cys2109=
NM_014363.6:c.6300_6302delinsTTC MANE Select	NP_055178.3:p.Cys2100=
NM_001278055.2:c.5859_5861delinsTTC	NP_001264984.1:p.Cys1953=