Canonical Allele Identifier: CA2580086828

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332617del , CM000675.2:g.23332617del	GRCh38
NC_000013.10:g.23906756del , CM000675.1:g.23906756del	GRCh37
NC_000013.9:g.22804756del	NCBI36
NG_012342.1:g.106088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20500del	ENSP00000508399.1:n.2186-20500del
ENST00000682944.1:c.11288del	ENSP00000507173.1:p.Asn3763ThrfsTer5
ENST00000683210.1:c.2185+21170del	ENSP00000506739.1:n.2185+21170del
ENST00000683270.1:c.6446-3131del	ENSP00000507624.1:n.6446-3131del
ENST00000683367.1:c.2177-3131del	ENSP00000507780.1:n.2177-3131del
ENST00000683489.1:c.2292-2663del	ENSP00000508403.1:n.2292-2663del
ENST00000683680.1:c.2319-2663del	ENSP00000507223.1:n.2319-2663del
ENST00000684163.1:c.2204-3131del	ENSP00000508262.1:n.2204-3131del
ENST00000684196.1:n.4543-3131del
ENST00000684325.1:c.2186-10941del	ENSP00000508121.1:n.2186-10941del
ENST00000684385.1:c.2221-3131del	ENSP00000507855.1:n.2221-3131del
ENST00000684497.1:c.2186-9971del	ENSP00000507057.1:n.2186-9971del
ENST00000382292.9:c.11261del MANE Select	ENSP00000371729.3:p.Asn3754ThrfsTer5
ENST00000423156.2:c.2186-3131del	ENSP00000390925.2:n.2186-3131del
ENST00000455470.6:c.2432-3131del	ENSP00000406565.2:n.2432-3131del
ENST00000382292.7:c.11261del	ENSP00000371729.3:p.Asn3754ThrfsTer5
ENST00000382298.7:c.11261del	ENSP00000371735.3:p.Asn3754ThrfsTer5
ENST00000402364.1:c.9011del	ENSP00000385844.1:p.Asn3004ThrfsTer5
ENST00000423156.1:c.1058-3131del	ENSP00000390925.1:n.1058-3131del
ENST00000455470.5:c.2130-3131del
NM_001278055.1:c.10820del	NP_001264984.1:p.Asn3607ThrfsTer5
NM_014363.5:c.11261del	NP_055178.3:p.Asn3754ThrfsTer5
XM_005266338.1:c.11288del	XP_005266395.1:p.Asn3763ThrfsTer5
XM_011535038.1:c.11312del	XP_011533340.1:p.Asn3771ThrfsTer5
XM_011535039.1:c.11279del	XP_011533341.1:p.Asn3760ThrfsTer5
XM_005266338.2:c.11288del	XP_005266395.1:p.Asn3763ThrfsTer5
XM_011535039.2:c.11279del	XP_011533341.1:p.Asn3760ThrfsTer5
XM_017020539.1:c.11252del	XP_016876028.1:p.Asn3751ThrfsTer5
XM_024449337.1:c.11288del	XP_024305105.1:p.Asn3763ThrfsTer5
NM_014363.6:c.11261del MANE Select	NP_055178.3:p.Asn3754ThrfsTer5
NM_001278055.2:c.10820del	NP_001264984.1:p.Asn3607ThrfsTer5