Canonical Allele Identifier: CA2695217796

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334732del , CM000675.2:g.23334732del	GRCh38
NC_000013.10:g.23908871del , CM000675.1:g.23908871del	GRCh37
NC_000013.9:g.22806871del	NCBI36
NG_012342.1:g.103971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19053del	ENSP00000508399.1:n.2185+19053del
ENST00000682944.1:c.9171del	ENSP00000507173.1:p.Thr3059GlnfsTer2
ENST00000683210.1:c.2185+19053del	ENSP00000506739.1:n.2185+19053del
ENST00000683270.1:c.6445+2690del	ENSP00000507624.1:n.6445+2690del
ENST00000683367.1:c.2177-5248del	ENSP00000507780.1:n.2177-5248del
ENST00000683489.1:c.2292-4780del	ENSP00000508403.1:n.2292-4780del
ENST00000683680.1:c.2319-4780del	ENSP00000507223.1:n.2319-4780del
ENST00000684163.1:c.2204-5248del	ENSP00000508262.1:n.2204-5248del
ENST00000684196.1:n.4543-5248del
ENST00000684325.1:c.2186-13058del	ENSP00000508121.1:n.2186-13058del
ENST00000684385.1:c.2221-5248del	ENSP00000507855.1:n.2221-5248del
ENST00000684497.1:c.2186-12088del	ENSP00000507057.1:n.2186-12088del
ENST00000382292.9:c.9144del MANE Select	ENSP00000371729.3:p.Thr3050GlnfsTer2
ENST00000423156.2:c.2186-5248del	ENSP00000390925.2:n.2186-5248del
ENST00000455470.6:c.2432-5248del	ENSP00000406565.2:n.2432-5248del
ENST00000382292.7:c.9144del	ENSP00000371729.3:p.Thr3050GlnfsTer2
ENST00000382298.7:c.9144del	ENSP00000371735.3:p.Thr3050GlnfsTer2
ENST00000402364.1:c.6894del	ENSP00000385844.1:p.Thr2300GlnfsTer2
ENST00000423156.1:c.1058-5248del	ENSP00000390925.1:n.1058-5248del
ENST00000455470.5:c.2130-5248del
NM_001278055.1:c.8703del	NP_001264984.1:p.Thr2903GlnfsTer2
NM_014363.5:c.9144del	NP_055178.3:p.Thr3050GlnfsTer2
XM_005266338.1:c.9171del	XP_005266395.1:p.Thr3059GlnfsTer2
XM_011535038.1:c.9195del	XP_011533340.1:p.Thr3067GlnfsTer2
XM_011535039.1:c.9162del	XP_011533341.1:p.Thr3056GlnfsTer2
XM_005266338.2:c.9171del	XP_005266395.1:p.Thr3059GlnfsTer2
XM_011535039.2:c.9162del	XP_011533341.1:p.Thr3056GlnfsTer2
XM_017020539.1:c.9135del	XP_016876028.1:p.Thr3047GlnfsTer2
XM_024449337.1:c.9171del	XP_024305105.1:p.Thr3059GlnfsTer2
NM_014363.6:c.9144del MANE Select	NP_055178.3:p.Thr3050GlnfsTer2
NM_001278055.2:c.8703del	NP_001264984.1:p.Thr2903GlnfsTer2