Canonical Allele Identifier: CA2798500440

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330895_23330897del , CM000675.2:g.23330895_23330897del	GRCh38
NC_000013.10:g.23905034_23905036del , CM000675.1:g.23905034_23905036del	GRCh37
NC_000013.9:g.22803034_22803036del	NCBI36
NG_012342.1:g.107807_107809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18781_2186-18779del	ENSP00000508399.1:n.2186-18781_2186-18779del
ENST00000682944.1:c.13007_13009del	ENSP00000507173.1:p.Lys4336del
ENST00000683210.1:c.2185+22889_2185+22891del	ENSP00000506739.1:n.2185+22889_2185+22891del
ENST00000683270.1:c.6446-1412_6446-1410del	ENSP00000507624.1:n.6446-1412_6446-1410del
ENST00000683367.1:c.2177-1412_2177-1410del	ENSP00000507780.1:n.2177-1412_2177-1410del
ENST00000683489.1:c.2292-944_2292-942del	ENSP00000508403.1:n.2292-944_2292-942del
ENST00000683680.1:c.2319-944_2319-942del	ENSP00000507223.1:n.2319-944_2319-942del
ENST00000684163.1:c.2204-1412_2204-1410del	ENSP00000508262.1:n.2204-1412_2204-1410del
ENST00000684196.1:n.4543-1412_4543-1410del
ENST00000684325.1:c.2186-9222_2186-9220del	ENSP00000508121.1:n.2186-9222_2186-9220del
ENST00000684385.1:c.2221-1412_2221-1410del	ENSP00000507855.1:n.2221-1412_2221-1410del
ENST00000684497.1:c.2186-8252_2186-8250del	ENSP00000507057.1:n.2186-8252_2186-8250del
ENST00000382292.9:c.12980_12982del MANE Select	ENSP00000371729.3:p.Lys4327del
ENST00000423156.2:c.2186-1412_2186-1410del	ENSP00000390925.2:n.2186-1412_2186-1410del
ENST00000455470.6:c.2432-1412_2432-1410del	ENSP00000406565.2:n.2432-1412_2432-1410del
ENST00000382292.7:c.12980_12982del	ENSP00000371729.3:p.Lys4327del
ENST00000382298.7:c.12980_12982del	ENSP00000371735.3:p.Lys4327del
ENST00000402364.1:c.10730_10732del	ENSP00000385844.1:p.Lys3577del
ENST00000423156.1:c.1058-1412_1058-1410del	ENSP00000390925.1:n.1058-1412_1058-1410del
ENST00000455470.5:c.2130-1412_2130-1410del
NM_001278055.1:c.12539_12541del	NP_001264984.1:p.Lys4180del
NM_014363.5:c.12980_12982del	NP_055178.3:p.Lys4327del
XM_005266338.1:c.13007_13009del	XP_005266395.1:p.Lys4336del
XM_011535038.1:c.13031_13033del	XP_011533340.1:p.Lys4344del
XM_011535039.1:c.12998_13000del	XP_011533341.1:p.Lys4333del
XM_005266338.2:c.13007_13009del	XP_005266395.1:p.Lys4336del
XM_011535039.2:c.12998_13000del	XP_011533341.1:p.Lys4333del
XM_017020539.1:c.12971_12973del	XP_016876028.1:p.Lys4324del
XM_024449337.1:c.13007_13009del	XP_024305105.1:p.Lys4336del
NM_014363.6:c.12980_12982del MANE Select	NP_055178.3:p.Lys4327del
NM_001278055.2:c.12539_12541del	NP_001264984.1:p.Lys4180del