Canonical Allele Identifier: CA2533625722

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332761_23332762insT , CM000675.2:g.23332761_23332762insT	GRCh38
NC_000013.10:g.23906900_23906901insT , CM000675.1:g.23906900_23906901insT	GRCh37
NC_000013.9:g.22804900_22804901insT	NCBI36
NG_012342.1:g.105941_105942insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20647_2186-20646insA	ENSP00000508399.1:n.2186-20647_2186-20646insA
ENST00000682944.1:c.11141_11142insA	ENSP00000507173.1:p.Ile3715TyrfsTer12
ENST00000683210.1:c.2185+21023_2185+21024insA	ENSP00000506739.1:n.2185+21023_2185+21024insA
ENST00000683270.1:c.6446-3278_6446-3277insA	ENSP00000507624.1:n.6446-3278_6446-3277insA
ENST00000683367.1:c.2177-3278_2177-3277insA	ENSP00000507780.1:n.2177-3278_2177-3277insA
ENST00000683489.1:c.2292-2810_2292-2809insA	ENSP00000508403.1:n.2292-2810_2292-2809insA
ENST00000683680.1:c.2319-2810_2319-2809insA	ENSP00000507223.1:n.2319-2810_2319-2809insA
ENST00000684163.1:c.2204-3278_2204-3277insA	ENSP00000508262.1:n.2204-3278_2204-3277insA
ENST00000684196.1:n.4543-3278_4543-3277insA
ENST00000684325.1:c.2186-11088_2186-11087insA	ENSP00000508121.1:n.2186-11088_2186-11087insA
ENST00000684385.1:c.2221-3278_2221-3277insA	ENSP00000507855.1:n.2221-3278_2221-3277insA
ENST00000684497.1:c.2186-10118_2186-10117insA	ENSP00000507057.1:n.2186-10118_2186-10117insA
ENST00000382292.9:c.11114_11115insA MANE Select	ENSP00000371729.3:p.Ile3706TyrfsTer12
ENST00000423156.2:c.2186-3278_2186-3277insA	ENSP00000390925.2:n.2186-3278_2186-3277insA
ENST00000455470.6:c.2432-3278_2432-3277insA	ENSP00000406565.2:n.2432-3278_2432-3277insA
ENST00000382292.7:c.11114_11115insA	ENSP00000371729.3:p.Ile3706TyrfsTer12
ENST00000382298.7:c.11114_11115insA	ENSP00000371735.3:p.Ile3706TyrfsTer12
ENST00000402364.1:c.8864_8865insA	ENSP00000385844.1:p.Ile2956TyrfsTer12
ENST00000423156.1:c.1058-3278_1058-3277insA	ENSP00000390925.1:n.1058-3278_1058-3277insA
ENST00000455470.5:c.2130-3278_2130-3277insA
NM_001278055.1:c.10673_10674insA	NP_001264984.1:p.Ile3559TyrfsTer12
NM_014363.5:c.11114_11115insA	NP_055178.3:p.Ile3706TyrfsTer12
XM_005266338.1:c.11141_11142insA	XP_005266395.1:p.Ile3715TyrfsTer12
XM_011535038.1:c.11165_11166insA	XP_011533340.1:p.Ile3723TyrfsTer12
XM_011535039.1:c.11132_11133insA	XP_011533341.1:p.Ile3712TyrfsTer12
XM_005266338.2:c.11141_11142insA	XP_005266395.1:p.Ile3715TyrfsTer12
XM_011535039.2:c.11132_11133insA	XP_011533341.1:p.Ile3712TyrfsTer12
XM_017020539.1:c.11105_11106insA	XP_016876028.1:p.Ile3703TyrfsTer12
XM_024449337.1:c.11141_11142insA	XP_024305105.1:p.Ile3715TyrfsTer12
NM_014363.6:c.11114_11115insA MANE Select	NP_055178.3:p.Ile3706TyrfsTer12
NM_001278055.2:c.10673_10674insA	NP_001264984.1:p.Ile3559TyrfsTer12