Canonical Allele Identifier: CA912980180

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911351_23911352del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337212_23337213del , CM000675.2:g.23337212_23337213del	GRCh38
NC_000013.10:g.23911351_23911352del , CM000675.1:g.23911351_23911352del	GRCh37
NC_000013.9:g.22809351_22809352del	NCBI36
NG_012342.1:g.101490_101491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16572_2185+16573del	ENSP00000508399.1:n.2185+16572_2185+16573del
ENST00000682944.1:c.6690_6691del	ENSP00000507173.1:p.Lys2230AsnfsTer14
ENST00000683210.1:c.2185+16572_2185+16573del	ENSP00000506739.1:n.2185+16572_2185+16573del
ENST00000683270.1:c.6445+209_6445+210del	ENSP00000507624.1:n.6445+209_6445+210del
ENST00000683367.1:c.2177-7729_2177-7728del	ENSP00000507780.1:n.2177-7729_2177-7728del
ENST00000683489.1:c.2291+4372_2291+4373del	ENSP00000508403.1:n.2291+4372_2291+4373del
ENST00000683680.1:c.2318+4372_2318+4373del	ENSP00000507223.1:n.2318+4372_2318+4373del
ENST00000684163.1:c.2204-7729_2204-7728del	ENSP00000508262.1:n.2204-7729_2204-7728del
ENST00000684196.1:n.4543-7729_4543-7728del
ENST00000684325.1:c.2186-15539_2186-15538del	ENSP00000508121.1:n.2186-15539_2186-15538del
ENST00000684385.1:c.2221-7729_2221-7728del	ENSP00000507855.1:n.2221-7729_2221-7728del
ENST00000684497.1:c.2186-14569_2186-14568del	ENSP00000507057.1:n.2186-14569_2186-14568del
ENST00000382292.9:c.6663_6664del MANE Select	ENSP00000371729.3:p.Lys2221AsnfsTer14
ENST00000423156.2:c.2186-7729_2186-7728del	ENSP00000390925.2:n.2186-7729_2186-7728del
ENST00000455470.6:c.2431+4232_2431+4233del	ENSP00000406565.2:n.2431+4232_2431+4233del
ENST00000382292.7:c.6663_6664del	ENSP00000371729.3:p.Lys2221AsnfsTer14
ENST00000382298.7:c.6663_6664del	ENSP00000371735.3:p.Lys2221AsnfsTer14
ENST00000402364.1:c.4413_4414del	ENSP00000385844.1:p.Lys1471AsnfsTer14
ENST00000423156.1:c.1058-7729_1058-7728del	ENSP00000390925.1:n.1058-7729_1058-7728del
ENST00000455470.5:c.2129+4232_2129+4233del
NM_001278055.1:c.6222_6223del	NP_001264984.1:p.Lys2074AsnfsTer14
NM_014363.5:c.6663_6664del	NP_055178.3:p.Lys2221AsnfsTer14
XM_005266338.1:c.6690_6691del	XP_005266395.1:p.Lys2230AsnfsTer14
XM_011535038.1:c.6714_6715del	XP_011533340.1:p.Lys2238AsnfsTer14
XM_011535039.1:c.6681_6682del	XP_011533341.1:p.Lys2227AsnfsTer14
XM_005266338.2:c.6690_6691del	XP_005266395.1:p.Lys2230AsnfsTer14
XM_011535039.2:c.6681_6682del	XP_011533341.1:p.Lys2227AsnfsTer14
XM_017020539.1:c.6654_6655del	XP_016876028.1:p.Lys2218AsnfsTer14
XM_024449337.1:c.6690_6691del	XP_024305105.1:p.Lys2230AsnfsTer14
NM_014363.6:c.6663_6664del MANE Select	NP_055178.3:p.Lys2221AsnfsTer14
NM_001278055.2:c.6222_6223del	NP_001264984.1:p.Lys2074AsnfsTer14