Canonical Allele Identifier: CA2078628731

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330895_23330896delinsCT , CM000675.2:g.23330895_23330896delinsCT	GRCh38
NC_000013.10:g.23905034_23905035delinsCT , CM000675.1:g.23905034_23905035delinsCT	GRCh37
NC_000013.9:g.22803034_22803035delinsCT	NCBI36
NG_012342.1:g.107807_107808delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18781_2186-18780delinsAG	ENSP00000508399.1:n.2186-18781_2186-18780delinsAG
ENST00000682944.1:c.13007_13008delinsAG	ENSP00000507173.1:p.Lys4336=
ENST00000683210.1:c.2185+22889_2185+22890delinsAG	ENSP00000506739.1:n.2185+22889_2185+22890delinsAG
ENST00000683270.1:c.6446-1412_6446-1411delinsAG	ENSP00000507624.1:n.6446-1412_6446-1411delinsAG
ENST00000683367.1:c.2177-1412_2177-1411delinsAG	ENSP00000507780.1:n.2177-1412_2177-1411delinsAG
ENST00000683489.1:c.2292-944_2292-943delinsAG	ENSP00000508403.1:n.2292-944_2292-943delinsAG
ENST00000683680.1:c.2319-944_2319-943delinsAG	ENSP00000507223.1:n.2319-944_2319-943delinsAG
ENST00000684163.1:c.2204-1412_2204-1411delinsAG	ENSP00000508262.1:n.2204-1412_2204-1411delinsAG
ENST00000684196.1:n.4543-1412_4543-1411delinsAG
ENST00000684325.1:c.2186-9222_2186-9221delinsAG	ENSP00000508121.1:n.2186-9222_2186-9221delinsAG
ENST00000684385.1:c.2221-1412_2221-1411delinsAG	ENSP00000507855.1:n.2221-1412_2221-1411delinsAG
ENST00000684497.1:c.2186-8252_2186-8251delinsAG	ENSP00000507057.1:n.2186-8252_2186-8251delinsAG
ENST00000382292.9:c.12980_12981delinsAG MANE Select	ENSP00000371729.3:p.Lys4327=
ENST00000423156.2:c.2186-1412_2186-1411delinsAG	ENSP00000390925.2:n.2186-1412_2186-1411delinsAG
ENST00000455470.6:c.2432-1412_2432-1411delinsAG	ENSP00000406565.2:n.2432-1412_2432-1411delinsAG
ENST00000382292.7:c.12980_12981delinsAG	ENSP00000371729.3:p.Lys4327=
ENST00000382298.7:c.12980_12981delinsAG	ENSP00000371735.3:p.Lys4327=
ENST00000402364.1:c.10730_10731delinsAG	ENSP00000385844.1:p.Lys3577=
ENST00000423156.1:c.1058-1412_1058-1411delinsAG	ENSP00000390925.1:n.1058-1412_1058-1411delinsAG
ENST00000455470.5:c.2130-1412_2130-1411delinsAG
NM_001278055.1:c.12539_12540delinsAG	NP_001264984.1:p.Lys4180=
NM_014363.5:c.12980_12981delinsAG	NP_055178.3:p.Lys4327=
XM_005266338.1:c.13007_13008delinsAG	XP_005266395.1:p.Lys4336=
XM_011535038.1:c.13031_13032delinsAG	XP_011533340.1:p.Lys4344=
XM_011535039.1:c.12998_12999delinsAG	XP_011533341.1:p.Lys4333=
XM_005266338.2:c.13007_13008delinsAG	XP_005266395.1:p.Lys4336=
XM_011535039.2:c.12998_12999delinsAG	XP_011533341.1:p.Lys4333=
XM_017020539.1:c.12971_12972delinsAG	XP_016876028.1:p.Lys4324=
XM_024449337.1:c.13007_13008delinsAG	XP_024305105.1:p.Lys4336=
NM_014363.6:c.12980_12981delinsAG MANE Select	NP_055178.3:p.Lys4327=
NM_001278055.2:c.12539_12540delinsAG	NP_001264984.1:p.Lys4180=