Canonical Allele Identifier: CA912980187

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911658_23911662del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337519_23337523del , CM000675.2:g.23337519_23337523del	GRCh38
NC_000013.10:g.23911658_23911662del , CM000675.1:g.23911658_23911662del	GRCh37
NC_000013.9:g.22809658_22809662del	NCBI36
NG_012342.1:g.101181_101185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16263_2185+16267del	ENSP00000508399.1:n.2185+16263_2185+16267del
ENST00000682944.1:c.6381_6385del	ENSP00000507173.1:p.Arg2128CysfsTer5
ENST00000683210.1:c.2185+16263_2185+16267del	ENSP00000506739.1:n.2185+16263_2185+16267del
ENST00000683270.1:c.6345_6349del	ENSP00000507624.1:p.Arg2116CysfsTer5
ENST00000683367.1:c.2177-8038_2177-8034del	ENSP00000507780.1:n.2177-8038_2177-8034del
ENST00000683489.1:c.2291+4063_2291+4067del	ENSP00000508403.1:n.2291+4063_2291+4067del
ENST00000683680.1:c.2318+4063_2318+4067del	ENSP00000507223.1:n.2318+4063_2318+4067del
ENST00000684163.1:c.2204-8038_2204-8034del	ENSP00000508262.1:n.2204-8038_2204-8034del
ENST00000684196.1:n.4543-8038_4543-8034del
ENST00000684325.1:c.2186-15848_2186-15844del	ENSP00000508121.1:n.2186-15848_2186-15844del
ENST00000684385.1:c.2221-8038_2221-8034del	ENSP00000507855.1:n.2221-8038_2221-8034del
ENST00000684497.1:c.2186-14878_2186-14874del	ENSP00000507057.1:n.2186-14878_2186-14874del
ENST00000382292.9:c.6354_6358del MANE Select	ENSP00000371729.3:p.Arg2119CysfsTer5
ENST00000423156.2:c.2186-8038_2186-8034del	ENSP00000390925.2:n.2186-8038_2186-8034del
ENST00000455470.6:c.2431+3923_2431+3927del	ENSP00000406565.2:n.2431+3923_2431+3927del
ENST00000382292.7:c.6354_6358del	ENSP00000371729.3:p.Arg2119CysfsTer5
ENST00000382298.7:c.6354_6358del	ENSP00000371735.3:p.Arg2119CysfsTer5
ENST00000402364.1:c.4104_4108del	ENSP00000385844.1:p.Arg1369CysfsTer5
ENST00000423156.1:c.1058-8038_1058-8034del	ENSP00000390925.1:n.1058-8038_1058-8034del
ENST00000455470.5:c.2129+3923_2129+3927del
NM_001278055.1:c.5913_5917del	NP_001264984.1:p.Arg1972CysfsTer5
NM_014363.5:c.6354_6358del	NP_055178.3:p.Arg2119CysfsTer5
XM_005266338.1:c.6381_6385del	XP_005266395.1:p.Arg2128CysfsTer5
XM_011535038.1:c.6405_6409del	XP_011533340.1:p.Arg2136CysfsTer5
XM_011535039.1:c.6372_6376del	XP_011533341.1:p.Arg2125CysfsTer5
XM_005266338.2:c.6381_6385del	XP_005266395.1:p.Arg2128CysfsTer5
XM_011535039.2:c.6372_6376del	XP_011533341.1:p.Arg2125CysfsTer5
XM_017020539.1:c.6345_6349del	XP_016876028.1:p.Arg2116CysfsTer5
XM_024449337.1:c.6381_6385del	XP_024305105.1:p.Arg2128CysfsTer5
NM_014363.6:c.6354_6358del MANE Select	NP_055178.3:p.Arg2119CysfsTer5
NM_001278055.2:c.5913_5917del	NP_001264984.1:p.Arg1972CysfsTer5