Canonical Allele Identifier: CA483157989

Gene: SACS

Linked Data

• COSMIC: COSM1731540 ; COSM1731541
• MyVariant Identifiers: chr13:g.23905159del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331021del , CM000675.2:g.23331021del	GRCh38
NC_000013.10:g.23905160del , CM000675.1:g.23905160del	GRCh37
NC_000013.9:g.22803160del	NCBI36
NG_012342.1:g.107683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18905del	ENSP00000508399.1:n.2186-18905del
ENST00000682944.1:c.12883del	ENSP00000507173.1:p.His4295ThrfsTer22
ENST00000683210.1:c.2185+22765del	ENSP00000506739.1:n.2185+22765del
ENST00000683270.1:c.6446-1536del	ENSP00000507624.1:n.6446-1536del
ENST00000683367.1:c.2177-1536del	ENSP00000507780.1:n.2177-1536del
ENST00000683489.1:c.2292-1068del	ENSP00000508403.1:n.2292-1068del
ENST00000683680.1:c.2319-1068del	ENSP00000507223.1:n.2319-1068del
ENST00000684163.1:c.2204-1536del	ENSP00000508262.1:n.2204-1536del
ENST00000684196.1:n.4543-1536del
ENST00000684325.1:c.2186-9346del	ENSP00000508121.1:n.2186-9346del
ENST00000684385.1:c.2221-1536del	ENSP00000507855.1:n.2221-1536del
ENST00000684497.1:c.2186-8376del	ENSP00000507057.1:n.2186-8376del
ENST00000382292.9:c.12856del MANE Select	ENSP00000371729.3:p.His4286ThrfsTer22
ENST00000423156.2:c.2186-1536del	ENSP00000390925.2:n.2186-1536del
ENST00000455470.6:c.2432-1536del	ENSP00000406565.2:n.2432-1536del
ENST00000382292.7:c.12856del	ENSP00000371729.3:p.His4286ThrfsTer22
ENST00000382298.7:c.12856del	ENSP00000371735.3:p.His4286ThrfsTer22
ENST00000402364.1:c.10606del	ENSP00000385844.1:p.His3536ThrfsTer22
ENST00000423156.1:c.1058-1536del	ENSP00000390925.1:n.1058-1536del
ENST00000455470.5:c.2130-1536del
NM_001278055.1:c.12415del	NP_001264984.1:p.His4139ThrfsTer22
NM_014363.5:c.12856del	NP_055178.3:p.His4286ThrfsTer22
XM_005266338.1:c.12883del	XP_005266395.1:p.His4295ThrfsTer22
XM_011535038.1:c.12907del	XP_011533340.1:p.His4303ThrfsTer22
XM_011535039.1:c.12874del	XP_011533341.1:p.His4292ThrfsTer22
XM_005266338.2:c.12883del	XP_005266395.1:p.His4295ThrfsTer22
XM_011535039.2:c.12874del	XP_011533341.1:p.His4292ThrfsTer22
XM_017020539.1:c.12847del	XP_016876028.1:p.His4283ThrfsTer22
XM_024449337.1:c.12883del	XP_024305105.1:p.His4295ThrfsTer22
NM_014363.6:c.12856del MANE Select	NP_055178.3:p.His4286ThrfsTer22
NM_001278055.2:c.12415del	NP_001264984.1:p.His4139ThrfsTer22