Canonical Allele Identifier: CA2831039784

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334261_23334265del , CM000675.2:g.23334261_23334265del	GRCh38
NC_000013.10:g.23908400_23908404del , CM000675.1:g.23908400_23908404del	GRCh37
NC_000013.9:g.22806400_22806404del	NCBI36
NG_012342.1:g.104438_104442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19520_2185+19524del	ENSP00000508399.1:n.2185+19520_2185+19524del
ENST00000682944.1:c.9638_9642del	ENSP00000507173.1:p.Lys3213SerfsTer5
ENST00000683210.1:c.2185+19520_2185+19524del	ENSP00000506739.1:n.2185+19520_2185+19524del
ENST00000683270.1:c.6445+3157_6445+3161del	ENSP00000507624.1:n.6445+3157_6445+3161del
ENST00000683367.1:c.2177-4781_2177-4777del	ENSP00000507780.1:n.2177-4781_2177-4777del
ENST00000683489.1:c.2292-4313_2292-4309del	ENSP00000508403.1:n.2292-4313_2292-4309del
ENST00000683680.1:c.2319-4313_2319-4309del	ENSP00000507223.1:n.2319-4313_2319-4309del
ENST00000684163.1:c.2204-4781_2204-4777del	ENSP00000508262.1:n.2204-4781_2204-4777del
ENST00000684196.1:n.4543-4781_4543-4777del
ENST00000684325.1:c.2186-12591_2186-12587del	ENSP00000508121.1:n.2186-12591_2186-12587del
ENST00000684385.1:c.2221-4781_2221-4777del	ENSP00000507855.1:n.2221-4781_2221-4777del
ENST00000684497.1:c.2186-11621_2186-11617del	ENSP00000507057.1:n.2186-11621_2186-11617del
ENST00000382292.9:c.9611_9615del MANE Select	ENSP00000371729.3:p.Lys3204SerfsTer5
ENST00000423156.2:c.2186-4781_2186-4777del	ENSP00000390925.2:n.2186-4781_2186-4777del
ENST00000455470.6:c.2432-4781_2432-4777del	ENSP00000406565.2:n.2432-4781_2432-4777del
ENST00000382292.7:c.9611_9615del	ENSP00000371729.3:p.Lys3204SerfsTer5
ENST00000382298.7:c.9611_9615del	ENSP00000371735.3:p.Lys3204SerfsTer5
ENST00000402364.1:c.7361_7365del	ENSP00000385844.1:p.Lys2454SerfsTer5
ENST00000423156.1:c.1058-4781_1058-4777del	ENSP00000390925.1:n.1058-4781_1058-4777del
ENST00000455470.5:c.2130-4781_2130-4777del
NM_001278055.1:c.9170_9174del	NP_001264984.1:p.Lys3057SerfsTer5
NM_014363.5:c.9611_9615del	NP_055178.3:p.Lys3204SerfsTer5
XM_005266338.1:c.9638_9642del	XP_005266395.1:p.Lys3213SerfsTer5
XM_011535038.1:c.9662_9666del	XP_011533340.1:p.Lys3221SerfsTer5
XM_011535039.1:c.9629_9633del	XP_011533341.1:p.Lys3210SerfsTer5
XM_005266338.2:c.9638_9642del	XP_005266395.1:p.Lys3213SerfsTer5
XM_011535039.2:c.9629_9633del	XP_011533341.1:p.Lys3210SerfsTer5
XM_017020539.1:c.9602_9606del	XP_016876028.1:p.Lys3201SerfsTer5
XM_024449337.1:c.9638_9642del	XP_024305105.1:p.Lys3213SerfsTer5
NM_014363.6:c.9611_9615del MANE Select	NP_055178.3:p.Lys3204SerfsTer5
NM_001278055.2:c.9170_9174del	NP_001264984.1:p.Lys3057SerfsTer5