Canonical Allele Identifier: CA2078628704

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338130_23338132delinsCAT , CM000675.2:g.23338130_23338132delinsCAT	GRCh38
NC_000013.10:g.23912269_23912271delinsCAT , CM000675.1:g.23912269_23912271delinsCAT	GRCh37
NC_000013.9:g.22810269_22810271delinsCAT	NCBI36
NG_012342.1:g.100571_100573delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15653_2185+15655delinsATG	ENSP00000508399.1:n.2185+15653_2185+15655delinsATG
ENST00000682944.1:c.5771_5773delinsATG	ENSP00000507173.1:p.His1924=
ENST00000683210.1:c.2185+15653_2185+15655delinsATG	ENSP00000506739.1:n.2185+15653_2185+15655delinsATG
ENST00000683270.1:c.5735_5737delinsATG	ENSP00000507624.1:p.His1912=
ENST00000683367.1:c.2177-8648_2177-8646delinsATG	ENSP00000507780.1:n.2177-8648_2177-8646delinsATG
ENST00000683489.1:c.2291+3453_2291+3455delinsATG	ENSP00000508403.1:n.2291+3453_2291+3455delinsATG
ENST00000683680.1:c.2318+3453_2318+3455delinsATG	ENSP00000507223.1:n.2318+3453_2318+3455delinsATG
ENST00000684163.1:c.2204-8648_2204-8646delinsATG	ENSP00000508262.1:n.2204-8648_2204-8646delinsATG
ENST00000684196.1:n.4543-8648_4543-8646delinsATG
ENST00000684325.1:c.2185+15653_2185+15655delinsATG	ENSP00000508121.1:n.2185+15653_2185+15655delinsATG
ENST00000684385.1:c.2221-8648_2221-8646delinsATG	ENSP00000507855.1:n.2221-8648_2221-8646delinsATG
ENST00000684497.1:c.2186-15488_2186-15486delinsATG	ENSP00000507057.1:n.2186-15488_2186-15486delinsATG
ENST00000382292.9:c.5744_5746delinsATG MANE Select	ENSP00000371729.3:p.His1915=
ENST00000423156.2:c.2186-8648_2186-8646delinsATG	ENSP00000390925.2:n.2186-8648_2186-8646delinsATG
ENST00000455470.6:c.2431+3313_2431+3315delinsATG	ENSP00000406565.2:n.2431+3313_2431+3315delinsATG
ENST00000382292.7:c.5744_5746delinsATG	ENSP00000371729.3:p.His1915=
ENST00000382298.7:c.5744_5746delinsATG	ENSP00000371735.3:p.His1915=
ENST00000402364.1:c.3494_3496delinsATG	ENSP00000385844.1:p.His1165=
ENST00000423156.1:c.1058-8648_1058-8646delinsATG	ENSP00000390925.1:n.1058-8648_1058-8646delinsATG
ENST00000455470.5:c.2129+3313_2129+3315delinsATG
NM_001278055.1:c.5303_5305delinsATG	NP_001264984.1:p.His1768=
NM_014363.5:c.5744_5746delinsATG	NP_055178.3:p.His1915=
XM_005266338.1:c.5771_5773delinsATG	XP_005266395.1:p.His1924=
XM_011535038.1:c.5795_5797delinsATG	XP_011533340.1:p.His1932=
XM_011535039.1:c.5762_5764delinsATG	XP_011533341.1:p.His1921=
XM_005266338.2:c.5771_5773delinsATG	XP_005266395.1:p.His1924=
XM_011535039.2:c.5762_5764delinsATG	XP_011533341.1:p.His1921=
XM_017020539.1:c.5735_5737delinsATG	XP_016876028.1:p.His1912=
XM_024449337.1:c.5771_5773delinsATG	XP_024305105.1:p.His1924=
NM_014363.6:c.5744_5746delinsATG MANE Select	NP_055178.3:p.His1915=
NM_001278055.2:c.5303_5305delinsATG	NP_001264984.1:p.His1768=