Canonical Allele Identifier: CA2078642977

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340679_23340681delinsCAA , CM000675.2:g.23340679_23340681delinsCAA	GRCh38
NC_000013.10:g.23914818_23914820delinsCAA , CM000675.1:g.23914818_23914820delinsCAA	GRCh37
NC_000013.9:g.22812818_22812820delinsCAA	NCBI36
NG_012342.1:g.98022_98024delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13104_2185+13106delinsTTG	ENSP00000508399.1:n.2185+13104_2185+13106delinsTTG
ENST00000682944.1:c.3222_3224delinsTTG	ENSP00000507173.1:p.Phe1074=
ENST00000683210.1:c.2185+13104_2185+13106delinsTTG	ENSP00000506739.1:n.2185+13104_2185+13106delinsTTG
ENST00000683270.1:c.3186_3188delinsTTG	ENSP00000507624.1:p.Phe1062=
ENST00000683367.1:c.2177-11197_2177-11195delinsTTG	ENSP00000507780.1:n.2177-11197_2177-11195delinsTTG
ENST00000683489.1:c.2291+904_2291+906delinsTTG	ENSP00000508403.1:n.2291+904_2291+906delinsTTG
ENST00000683680.1:c.2318+904_2318+906delinsTTG	ENSP00000507223.1:n.2318+904_2318+906delinsTTG
ENST00000684163.1:c.2203+6130_2203+6132delinsTTG	ENSP00000508262.1:n.2203+6130_2203+6132delinsTTG
ENST00000684196.1:n.4543-11197_4543-11195delinsTTG
ENST00000684325.1:c.2185+13104_2185+13106delinsTTG	ENSP00000508121.1:n.2185+13104_2185+13106delinsTTG
ENST00000684385.1:c.2220+6130_2220+6132delinsTTG	ENSP00000507855.1:n.2220+6130_2220+6132delinsTTG
ENST00000684497.1:c.2185+13104_2185+13106delinsTTG	ENSP00000507057.1:n.2185+13104_2185+13106delinsTTG
ENST00000382292.9:c.3195_3197delinsTTG MANE Select	ENSP00000371729.3:p.Phe1065=
ENST00000423156.2:c.2186-11197_2186-11195delinsTTG	ENSP00000390925.2:n.2186-11197_2186-11195delinsTTG
ENST00000455470.6:c.2431+764_2431+766delinsTTG	ENSP00000406565.2:n.2431+764_2431+766delinsTTG
ENST00000382292.7:c.3195_3197delinsTTG	ENSP00000371729.3:p.Phe1065=
ENST00000382298.7:c.3195_3197delinsTTG	ENSP00000371735.3:p.Phe1065=
ENST00000402364.1:c.945_947delinsTTG	ENSP00000385844.1:p.Phe315=
ENST00000423156.1:c.1058-11197_1058-11195delinsTTG	ENSP00000390925.1:n.1058-11197_1058-11195delinsTTG
ENST00000455470.5:c.2129+764_2129+766delinsTTG
NM_001278055.1:c.2754_2756delinsTTG	NP_001264984.1:p.Phe918=
NM_014363.5:c.3195_3197delinsTTG	NP_055178.3:p.Phe1065=
XM_005266338.1:c.3222_3224delinsTTG	XP_005266395.1:p.Phe1074=
XM_011535038.1:c.3246_3248delinsTTG	XP_011533340.1:p.Phe1082=
XM_011535039.1:c.3213_3215delinsTTG	XP_011533341.1:p.Phe1071=
XM_005266338.2:c.3222_3224delinsTTG	XP_005266395.1:p.Phe1074=
XM_011535039.2:c.3213_3215delinsTTG	XP_011533341.1:p.Phe1071=
XM_017020539.1:c.3186_3188delinsTTG	XP_016876028.1:p.Phe1062=
XM_024449337.1:c.3222_3224delinsTTG	XP_024305105.1:p.Phe1074=
NM_014363.6:c.3195_3197delinsTTG MANE Select	NP_055178.3:p.Phe1065=
NM_001278055.2:c.2754_2756delinsTTG	NP_001264984.1:p.Phe918=