Canonical Allele Identifier: CA2695217767

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358458del , CM000675.2:g.23358458del	GRCh38
NC_000013.10:g.23932597del , CM000675.1:g.23932597del	GRCh37
NC_000013.9:g.22830597del	NCBI36
NG_012342.1:g.80246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.482del	ENSP00000508399.1:p.Asn161ThrfsTer15
ENST00000682944.1:c.482del	ENSP00000507173.1:p.Asn161ThrfsTer15
ENST00000683154.1:n.620del
ENST00000683210.1:c.482del	ENSP00000506739.1:p.Asn161ThrfsTer15
ENST00000683270.1:c.473del	ENSP00000507624.1:p.Asn158ThrfsTer15
ENST00000683367.1:c.473del	ENSP00000507780.1:p.Asn158ThrfsTer15
ENST00000683489.1:c.482del	ENSP00000508403.1:p.Asn161ThrfsTer15
ENST00000683680.1:c.482del	ENSP00000507223.1:p.Asn161ThrfsTer15
ENST00000684163.1:c.473del	ENSP00000508262.1:p.Asn158ThrfsTer15
ENST00000684196.1:n.2839del
ENST00000684325.1:c.482del	ENSP00000508121.1:p.Asn161ThrfsTer15
ENST00000684385.1:c.482del	ENSP00000507855.1:p.Asn161ThrfsTer15
ENST00000684497.1:c.482del	ENSP00000507057.1:p.Asn161ThrfsTer15
ENST00000382292.9:c.482del MANE Select	ENSP00000371729.3:p.Asn161ThrfsTer15
ENST00000423156.2:c.482del	ENSP00000390925.2:p.Asn161ThrfsTer15
ENST00000455470.6:c.482del	ENSP00000406565.2:p.Asn161ThrfsTer15
ENST00000382292.7:c.482del	ENSP00000371729.3:p.Asn161ThrfsTer15
ENST00000382298.7:c.482del	ENSP00000371735.3:p.Asn161ThrfsTer15
ENST00000402364.1:c.-1769del	ENSP00000385844.1:n.-1769del
ENST00000455470.5:c.180del
NM_001278055.1:c.41del	NP_001264984.1:p.Asn14ThrfsTer15
NM_014363.5:c.482del	NP_055178.3:p.Asn161ThrfsTer15
XM_005266338.1:c.482del	XP_005266395.1:p.Asn161ThrfsTer15
XM_011535038.1:c.506del	XP_011533340.1:p.Asn169ThrfsTer15
XM_011535039.1:c.473del	XP_011533341.1:p.Asn158ThrfsTer15
XM_005266338.2:c.482del	XP_005266395.1:p.Asn161ThrfsTer15
XM_011535039.2:c.473del	XP_011533341.1:p.Asn158ThrfsTer15
XM_017020539.1:c.473del	XP_016876028.1:p.Asn158ThrfsTer15
XM_024449337.1:c.482del	XP_024305105.1:p.Asn161ThrfsTer15
NM_014363.6:c.482del MANE Select	NP_055178.3:p.Asn161ThrfsTer15
NM_001278055.2:c.41del	NP_001264984.1:p.Asn14ThrfsTer15