Canonical Allele Identifier: CA2078626141

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336728_23336729delinsCG , CM000675.2:g.23336728_23336729delinsCG	GRCh38
NC_000013.10:g.23910867_23910868delinsCG , CM000675.1:g.23910867_23910868delinsCG	GRCh37
NC_000013.9:g.22808867_22808868delinsCG	NCBI36
NG_012342.1:g.101974_101975delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17056_2185+17057delinsCG	ENSP00000508399.1:n.2185+17056_2185+17057delinsCG
ENST00000682944.1:c.7174_7175delinsCG	ENSP00000507173.1:p.Arg2392=
ENST00000683210.1:c.2185+17056_2185+17057delinsCG	ENSP00000506739.1:n.2185+17056_2185+17057delinsCG
ENST00000683270.1:c.6445+693_6445+694delinsCG	ENSP00000507624.1:n.6445+693_6445+694delinsCG
ENST00000683367.1:c.2177-7245_2177-7244delinsCG	ENSP00000507780.1:n.2177-7245_2177-7244delinsCG
ENST00000683489.1:c.2291+4856_2291+4857delinsCG	ENSP00000508403.1:n.2291+4856_2291+4857delinsCG
ENST00000683680.1:c.2318+4856_2318+4857delinsCG	ENSP00000507223.1:n.2318+4856_2318+4857delinsCG
ENST00000684163.1:c.2204-7245_2204-7244delinsCG	ENSP00000508262.1:n.2204-7245_2204-7244delinsCG
ENST00000684196.1:n.4543-7245_4543-7244delinsCG
ENST00000684325.1:c.2186-15055_2186-15054delinsCG	ENSP00000508121.1:n.2186-15055_2186-15054delinsCG
ENST00000684385.1:c.2221-7245_2221-7244delinsCG	ENSP00000507855.1:n.2221-7245_2221-7244delinsCG
ENST00000684497.1:c.2186-14085_2186-14084delinsCG	ENSP00000507057.1:n.2186-14085_2186-14084delinsCG
ENST00000382292.9:c.7147_7148delinsCG MANE Select	ENSP00000371729.3:p.Arg2383=
ENST00000423156.2:c.2186-7245_2186-7244delinsCG	ENSP00000390925.2:n.2186-7245_2186-7244delinsCG
ENST00000455470.6:c.2431+4716_2431+4717delinsCG	ENSP00000406565.2:n.2431+4716_2431+4717delinsCG
ENST00000382292.7:c.7147_7148delinsCG	ENSP00000371729.3:p.Arg2383=
ENST00000382298.7:c.7147_7148delinsCG	ENSP00000371735.3:p.Arg2383=
ENST00000402364.1:c.4897_4898delinsCG	ENSP00000385844.1:p.Arg1633=
ENST00000423156.1:c.1058-7245_1058-7244delinsCG	ENSP00000390925.1:n.1058-7245_1058-7244delinsCG
ENST00000455470.5:c.2129+4716_2129+4717delinsCG
NM_001278055.1:c.6706_6707delinsCG	NP_001264984.1:p.Arg2236=
NM_014363.5:c.7147_7148delinsCG	NP_055178.3:p.Arg2383=
XM_005266338.1:c.7174_7175delinsCG	XP_005266395.1:p.Arg2392=
XM_011535038.1:c.7198_7199delinsCG	XP_011533340.1:p.Arg2400=
XM_011535039.1:c.7165_7166delinsCG	XP_011533341.1:p.Arg2389=
XM_005266338.2:c.7174_7175delinsCG	XP_005266395.1:p.Arg2392=
XM_011535039.2:c.7165_7166delinsCG	XP_011533341.1:p.Arg2389=
XM_017020539.1:c.7138_7139delinsCG	XP_016876028.1:p.Arg2380=
XM_024449337.1:c.7174_7175delinsCG	XP_024305105.1:p.Arg2392=
NM_014363.6:c.7147_7148delinsCG MANE Select	NP_055178.3:p.Arg2383=
NM_001278055.2:c.6706_6707delinsCG	NP_001264984.1:p.Arg2236=