Canonical Allele Identifier: CA246652445

Gene: SACS

Linked Data

• dbSNP Id: rs1052973590
• MyVariant Identifiers: chr13:g.23907562del (hg19) ; chr13:g.23333423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333427del , CM000675.2:g.23333427del	GRCh38
NC_000013.10:g.23907566del , CM000675.1:g.23907566del	GRCh37
NC_000013.9:g.22805566del	NCBI36
NG_012342.1:g.105280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20362del	ENSP00000508399.1:n.2185+20362del
ENST00000682944.1:c.10480del	ENSP00000507173.1:p.Ile3494LeufsTer10
ENST00000683210.1:c.2185+20362del	ENSP00000506739.1:n.2185+20362del
ENST00000683270.1:c.6446-3939del	ENSP00000507624.1:n.6446-3939del
ENST00000683367.1:c.2177-3939del	ENSP00000507780.1:n.2177-3939del
ENST00000683489.1:c.2292-3471del	ENSP00000508403.1:n.2292-3471del
ENST00000683680.1:c.2319-3471del	ENSP00000507223.1:n.2319-3471del
ENST00000684163.1:c.2204-3939del	ENSP00000508262.1:n.2204-3939del
ENST00000684196.1:n.4543-3939del
ENST00000684325.1:c.2186-11749del	ENSP00000508121.1:n.2186-11749del
ENST00000684385.1:c.2221-3939del	ENSP00000507855.1:n.2221-3939del
ENST00000684497.1:c.2186-10779del	ENSP00000507057.1:n.2186-10779del
ENST00000382292.9:c.10453del MANE Select	ENSP00000371729.3:p.Ile3485LeufsTer10
ENST00000423156.2:c.2186-3939del	ENSP00000390925.2:n.2186-3939del
ENST00000455470.6:c.2432-3939del	ENSP00000406565.2:n.2432-3939del
ENST00000382292.7:c.10453del	ENSP00000371729.3:p.Ile3485LeufsTer10
ENST00000382298.7:c.10453del	ENSP00000371735.3:p.Ile3485LeufsTer10
ENST00000402364.1:c.8203del	ENSP00000385844.1:p.Ile2735LeufsTer10
ENST00000423156.1:c.1058-3939del	ENSP00000390925.1:n.1058-3939del
ENST00000455470.5:c.2130-3939del
NM_001278055.1:c.10012del	NP_001264984.1:p.Ile3338LeufsTer10
NM_014363.5:c.10453del	NP_055178.3:p.Ile3485LeufsTer10
XM_005266338.1:c.10480del	XP_005266395.1:p.Ile3494LeufsTer10
XM_011535038.1:c.10504del	XP_011533340.1:p.Ile3502LeufsTer10
XM_011535039.1:c.10471del	XP_011533341.1:p.Ile3491LeufsTer10
XM_005266338.2:c.10480del	XP_005266395.1:p.Ile3494LeufsTer10
XM_011535039.2:c.10471del	XP_011533341.1:p.Ile3491LeufsTer10
XM_017020539.1:c.10444del	XP_016876028.1:p.Ile3482LeufsTer10
XM_024449337.1:c.10480del	XP_024305105.1:p.Ile3494LeufsTer10
NM_014363.6:c.10453del MANE Select	NP_055178.3:p.Ile3485LeufsTer10
NM_001278055.2:c.10012del	NP_001264984.1:p.Ile3338LeufsTer10