Canonical Allele Identifier: CA246662168

Gene: SACS

Linked Data

• dbSNP Id: rs34170409
• MyVariant Identifiers: chr13:g.23914526del (hg19) ; chr13:g.23340387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340388del , CM000675.2:g.23340388del	GRCh38
NC_000013.10:g.23914527del , CM000675.1:g.23914527del	GRCh37
NC_000013.9:g.22812527del	NCBI36
NG_012342.1:g.98316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13398del	ENSP00000508399.1:n.2185+13398del
ENST00000682944.1:c.3516del	ENSP00000507173.1:p.Arg1172SerfsTer27
ENST00000683210.1:c.2185+13398del	ENSP00000506739.1:n.2185+13398del
ENST00000683270.1:c.3480del	ENSP00000507624.1:p.Arg1160SerfsTer27
ENST00000683367.1:c.2177-10903del	ENSP00000507780.1:n.2177-10903del
ENST00000683489.1:c.2291+1198del	ENSP00000508403.1:n.2291+1198del
ENST00000683680.1:c.2318+1198del	ENSP00000507223.1:n.2318+1198del
ENST00000684163.1:c.2203+6424del	ENSP00000508262.1:n.2203+6424del
ENST00000684196.1:n.4543-10903del
ENST00000684325.1:c.2185+13398del	ENSP00000508121.1:n.2185+13398del
ENST00000684385.1:c.2220+6424del	ENSP00000507855.1:n.2220+6424del
ENST00000684497.1:c.2185+13398del	ENSP00000507057.1:n.2185+13398del
ENST00000382292.9:c.3489del MANE Select	ENSP00000371729.3:p.Arg1163SerfsTer27
ENST00000423156.2:c.2186-10903del	ENSP00000390925.2:n.2186-10903del
ENST00000455470.6:c.2431+1058del	ENSP00000406565.2:n.2431+1058del
ENST00000382292.7:c.3489del	ENSP00000371729.3:p.Arg1163SerfsTer27
ENST00000382298.7:c.3489del	ENSP00000371735.3:p.Arg1163SerfsTer27
ENST00000402364.1:c.1239del	ENSP00000385844.1:p.Arg413SerfsTer27
ENST00000423156.1:c.1058-10903del	ENSP00000390925.1:n.1058-10903del
ENST00000455470.5:c.2129+1058del
NM_001278055.1:c.3048del	NP_001264984.1:p.Arg1016SerfsTer27
NM_014363.5:c.3489del	NP_055178.3:p.Arg1163SerfsTer27
XM_005266338.1:c.3516del	XP_005266395.1:p.Arg1172SerfsTer27
XM_011535038.1:c.3540del	XP_011533340.1:p.Arg1180SerfsTer27
XM_011535039.1:c.3507del	XP_011533341.1:p.Arg1169SerfsTer27
XM_005266338.2:c.3516del	XP_005266395.1:p.Arg1172SerfsTer27
XM_011535039.2:c.3507del	XP_011533341.1:p.Arg1169SerfsTer27
XM_017020539.1:c.3480del	XP_016876028.1:p.Arg1160SerfsTer27
XM_024449337.1:c.3516del	XP_024305105.1:p.Arg1172SerfsTer27
NM_014363.6:c.3489del MANE Select	NP_055178.3:p.Arg1163SerfsTer27
NM_001278055.2:c.3048del	NP_001264984.1:p.Arg1016SerfsTer27