Canonical Allele Identifier: CA2078628179

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337874_23337877delinsCTTT , CM000675.2:g.23337874_23337877delinsCTTT	GRCh38
NC_000013.10:g.23912013_23912016delinsCTTT , CM000675.1:g.23912013_23912016delinsCTTT	GRCh37
NC_000013.9:g.22810013_22810016delinsCTTT	NCBI36
NG_012342.1:g.100826_100829delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15908_2185+15911delinsAAAG	ENSP00000508399.1:n.2185+15908_2185+15911delinsAAAG
ENST00000682944.1:c.6026_6029delinsAAAG	ENSP00000507173.1:p.Lys2009=
ENST00000683210.1:c.2185+15908_2185+15911delinsAAAG	ENSP00000506739.1:n.2185+15908_2185+15911delinsAAAG
ENST00000683270.1:c.5990_5993delinsAAAG	ENSP00000507624.1:p.Lys1997=
ENST00000683367.1:c.2177-8393_2177-8390delinsAAAG	ENSP00000507780.1:n.2177-8393_2177-8390delinsAAAG
ENST00000683489.1:c.2291+3708_2291+3711delinsAAAG	ENSP00000508403.1:n.2291+3708_2291+3711delinsAAAG
ENST00000683680.1:c.2318+3708_2318+3711delinsAAAG	ENSP00000507223.1:n.2318+3708_2318+3711delinsAAAG
ENST00000684163.1:c.2204-8393_2204-8390delinsAAAG	ENSP00000508262.1:n.2204-8393_2204-8390delinsAAAG
ENST00000684196.1:n.4543-8393_4543-8390delinsAAAG
ENST00000684325.1:c.2185+15908_2185+15911delinsAAAG	ENSP00000508121.1:n.2185+15908_2185+15911delinsAAAG
ENST00000684385.1:c.2221-8393_2221-8390delinsAAAG	ENSP00000507855.1:n.2221-8393_2221-8390delinsAAAG
ENST00000684497.1:c.2186-15233_2186-15230delinsAAAG	ENSP00000507057.1:n.2186-15233_2186-15230delinsAAAG
ENST00000382292.9:c.5999_6002delinsAAAG MANE Select	ENSP00000371729.3:p.Lys2000=
ENST00000423156.2:c.2186-8393_2186-8390delinsAAAG	ENSP00000390925.2:n.2186-8393_2186-8390delinsAAAG
ENST00000455470.6:c.2431+3568_2431+3571delinsAAAG	ENSP00000406565.2:n.2431+3568_2431+3571delinsAAAG
ENST00000382292.7:c.5999_6002delinsAAAG	ENSP00000371729.3:p.Lys2000=
ENST00000382298.7:c.5999_6002delinsAAAG	ENSP00000371735.3:p.Lys2000=
ENST00000402364.1:c.3749_3752delinsAAAG	ENSP00000385844.1:p.Lys1250=
ENST00000423156.1:c.1058-8393_1058-8390delinsAAAG	ENSP00000390925.1:n.1058-8393_1058-8390delinsAAAG
ENST00000455470.5:c.2129+3568_2129+3571delinsAAAG
NM_001278055.1:c.5558_5561delinsAAAG	NP_001264984.1:p.Lys1853=
NM_014363.5:c.5999_6002delinsAAAG	NP_055178.3:p.Lys2000=
XM_005266338.1:c.6026_6029delinsAAAG	XP_005266395.1:p.Lys2009=
XM_011535038.1:c.6050_6053delinsAAAG	XP_011533340.1:p.Lys2017=
XM_011535039.1:c.6017_6020delinsAAAG	XP_011533341.1:p.Lys2006=
XM_005266338.2:c.6026_6029delinsAAAG	XP_005266395.1:p.Lys2009=
XM_011535039.2:c.6017_6020delinsAAAG	XP_011533341.1:p.Lys2006=
XM_017020539.1:c.5990_5993delinsAAAG	XP_016876028.1:p.Lys1997=
XM_024449337.1:c.6026_6029delinsAAAG	XP_024305105.1:p.Lys2009=
NM_014363.6:c.5999_6002delinsAAAG MANE Select	NP_055178.3:p.Lys2000=
NM_001278055.2:c.5558_5561delinsAAAG	NP_001264984.1:p.Lys1853=