Canonical Allele Identifier: CA2695217788

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334372_23334385del , CM000675.2:g.23334372_23334385del	GRCh38
NC_000013.10:g.23908511_23908524del , CM000675.1:g.23908511_23908524del	GRCh37
NC_000013.9:g.22806511_22806524del	NCBI36
NG_012342.1:g.104322_104335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19404_2185+19417del	ENSP00000508399.1:n.2185+19404_2185+19417del
ENST00000682944.1:c.9522_9535del	ENSP00000507173.1:p.Phe3175ThrfsTer9
ENST00000683210.1:c.2185+19404_2185+19417del	ENSP00000506739.1:n.2185+19404_2185+19417del
ENST00000683270.1:c.6445+3041_6445+3054del	ENSP00000507624.1:n.6445+3041_6445+3054del
ENST00000683367.1:c.2177-4897_2177-4884del	ENSP00000507780.1:n.2177-4897_2177-4884del
ENST00000683489.1:c.2292-4429_2292-4416del	ENSP00000508403.1:n.2292-4429_2292-4416del
ENST00000683680.1:c.2319-4429_2319-4416del	ENSP00000507223.1:n.2319-4429_2319-4416del
ENST00000684163.1:c.2204-4897_2204-4884del	ENSP00000508262.1:n.2204-4897_2204-4884del
ENST00000684196.1:n.4543-4897_4543-4884del
ENST00000684325.1:c.2186-12707_2186-12694del	ENSP00000508121.1:n.2186-12707_2186-12694del
ENST00000684385.1:c.2221-4897_2221-4884del	ENSP00000507855.1:n.2221-4897_2221-4884del
ENST00000684497.1:c.2186-11737_2186-11724del	ENSP00000507057.1:n.2186-11737_2186-11724del
ENST00000382292.9:c.9495_9508del MANE Select	ENSP00000371729.3:p.Phe3166ThrfsTer9
ENST00000423156.2:c.2186-4897_2186-4884del	ENSP00000390925.2:n.2186-4897_2186-4884del
ENST00000455470.6:c.2432-4897_2432-4884del	ENSP00000406565.2:n.2432-4897_2432-4884del
ENST00000382292.7:c.9495_9508del	ENSP00000371729.3:p.Phe3166ThrfsTer9
ENST00000382298.7:c.9495_9508del	ENSP00000371735.3:p.Phe3166ThrfsTer9
ENST00000402364.1:c.7245_7258del	ENSP00000385844.1:p.Phe2416ThrfsTer9
ENST00000423156.1:c.1058-4897_1058-4884del	ENSP00000390925.1:n.1058-4897_1058-4884del
ENST00000455470.5:c.2130-4897_2130-4884del
NM_001278055.1:c.9054_9067del	NP_001264984.1:p.Phe3019ThrfsTer9
NM_014363.5:c.9495_9508del	NP_055178.3:p.Phe3166ThrfsTer9
XM_005266338.1:c.9522_9535del	XP_005266395.1:p.Phe3175ThrfsTer9
XM_011535038.1:c.9546_9559del	XP_011533340.1:p.Phe3183ThrfsTer9
XM_011535039.1:c.9513_9526del	XP_011533341.1:p.Phe3172ThrfsTer9
XM_005266338.2:c.9522_9535del	XP_005266395.1:p.Phe3175ThrfsTer9
XM_011535039.2:c.9513_9526del	XP_011533341.1:p.Phe3172ThrfsTer9
XM_017020539.1:c.9486_9499del	XP_016876028.1:p.Phe3163ThrfsTer9
XM_024449337.1:c.9522_9535del	XP_024305105.1:p.Phe3175ThrfsTer9
NM_014363.6:c.9495_9508del MANE Select	NP_055178.3:p.Phe3166ThrfsTer9
NM_001278055.2:c.9054_9067del	NP_001264984.1:p.Phe3019ThrfsTer9