Canonical Allele Identifier: CA2078629188

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338355_23338358delinsGTCT , CM000675.2:g.23338355_23338358delinsGTCT	GRCh38
NC_000013.10:g.23912494_23912497delinsGTCT , CM000675.1:g.23912494_23912497delinsGTCT	GRCh37
NC_000013.9:g.22810494_22810497delinsGTCT	NCBI36
NG_012342.1:g.100345_100348delinsAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15427_2185+15430delinsAGAC	ENSP00000508399.1:n.2185+15427_2185+15430delinsAGAC
ENST00000682944.1:c.5545_5548delinsAGAC	ENSP00000507173.1:p.Arg1849=
ENST00000683210.1:c.2185+15427_2185+15430delinsAGAC	ENSP00000506739.1:n.2185+15427_2185+15430delinsAGAC
ENST00000683270.1:c.5509_5512delinsAGAC	ENSP00000507624.1:p.Arg1837=
ENST00000683367.1:c.2177-8874_2177-8871delinsAGAC	ENSP00000507780.1:n.2177-8874_2177-8871delinsAGAC
ENST00000683489.1:c.2291+3227_2291+3230delinsAGAC	ENSP00000508403.1:n.2291+3227_2291+3230delinsAGAC
ENST00000683680.1:c.2318+3227_2318+3230delinsAGAC	ENSP00000507223.1:n.2318+3227_2318+3230delinsAGAC
ENST00000684163.1:c.2203+8453_2203+8456delinsAGAC	ENSP00000508262.1:n.2203+8453_2203+8456delinsAGAC
ENST00000684196.1:n.4543-8874_4543-8871delinsAGAC
ENST00000684325.1:c.2185+15427_2185+15430delinsAGAC	ENSP00000508121.1:n.2185+15427_2185+15430delinsAGAC
ENST00000684385.1:c.2220+8453_2220+8456delinsAGAC	ENSP00000507855.1:n.2220+8453_2220+8456delinsAGAC
ENST00000684497.1:c.2185+15427_2185+15430delinsAGAC	ENSP00000507057.1:n.2185+15427_2185+15430delinsAGAC
ENST00000382292.9:c.5518_5521delinsAGAC MANE Select	ENSP00000371729.3:p.Arg1840=
ENST00000423156.2:c.2186-8874_2186-8871delinsAGAC	ENSP00000390925.2:n.2186-8874_2186-8871delinsAGAC
ENST00000455470.6:c.2431+3087_2431+3090delinsAGAC	ENSP00000406565.2:n.2431+3087_2431+3090delinsAGAC
ENST00000382292.7:c.5518_5521delinsAGAC	ENSP00000371729.3:p.Arg1840=
ENST00000382298.7:c.5518_5521delinsAGAC	ENSP00000371735.3:p.Arg1840=
ENST00000402364.1:c.3268_3271delinsAGAC	ENSP00000385844.1:p.Arg1090=
ENST00000423156.1:c.1058-8874_1058-8871delinsAGAC	ENSP00000390925.1:n.1058-8874_1058-8871delinsAGAC
ENST00000455470.5:c.2129+3087_2129+3090delinsAGAC
NM_001278055.1:c.5077_5080delinsAGAC	NP_001264984.1:p.Arg1693=
NM_014363.5:c.5518_5521delinsAGAC	NP_055178.3:p.Arg1840=
XM_005266338.1:c.5545_5548delinsAGAC	XP_005266395.1:p.Arg1849=
XM_011535038.1:c.5569_5572delinsAGAC	XP_011533340.1:p.Arg1857=
XM_011535039.1:c.5536_5539delinsAGAC	XP_011533341.1:p.Arg1846=
XM_005266338.2:c.5545_5548delinsAGAC	XP_005266395.1:p.Arg1849=
XM_011535039.2:c.5536_5539delinsAGAC	XP_011533341.1:p.Arg1846=
XM_017020539.1:c.5509_5512delinsAGAC	XP_016876028.1:p.Arg1837=
XM_024449337.1:c.5545_5548delinsAGAC	XP_024305105.1:p.Arg1849=
NM_014363.6:c.5518_5521delinsAGAC MANE Select	NP_055178.3:p.Arg1840=
NM_001278055.2:c.5077_5080delinsAGAC	NP_001264984.1:p.Arg1693=