Canonical Allele Identifier: CA2507439203

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340675_23340676insCTCC , CM000675.2:g.23340675_23340676insCTCC	GRCh38
NC_000013.10:g.23914814_23914815insCTCC , CM000675.1:g.23914814_23914815insCTCC	GRCh37
NC_000013.9:g.22812814_22812815insCTCC	NCBI36
NG_012342.1:g.98027_98028insGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13109_2185+13110insGGAG	ENSP00000508399.1:n.2185+13109_2185+13110insGGAG
ENST00000682944.1:c.3227_3228insGGAG	ENSP00000507173.1:p.Asn1076LysfsTer3
ENST00000683210.1:c.2185+13109_2185+13110insGGAG	ENSP00000506739.1:n.2185+13109_2185+13110insGGAG
ENST00000683270.1:c.3191_3192insGGAG	ENSP00000507624.1:p.Asn1064LysfsTer3
ENST00000683367.1:c.2177-11192_2177-11191insGGAG	ENSP00000507780.1:n.2177-11192_2177-11191insGGAG
ENST00000683489.1:c.2291+909_2291+910insGGAG	ENSP00000508403.1:n.2291+909_2291+910insGGAG
ENST00000683680.1:c.2318+909_2318+910insGGAG	ENSP00000507223.1:n.2318+909_2318+910insGGAG
ENST00000684163.1:c.2203+6135_2203+6136insGGAG	ENSP00000508262.1:n.2203+6135_2203+6136insGGAG
ENST00000684196.1:n.4543-11192_4543-11191insGGAG
ENST00000684325.1:c.2185+13109_2185+13110insGGAG	ENSP00000508121.1:n.2185+13109_2185+13110insGGAG
ENST00000684385.1:c.2220+6135_2220+6136insGGAG	ENSP00000507855.1:n.2220+6135_2220+6136insGGAG
ENST00000684497.1:c.2185+13109_2185+13110insGGAG	ENSP00000507057.1:n.2185+13109_2185+13110insGGAG
ENST00000382292.9:c.3200_3201insGGAG MANE Select	ENSP00000371729.3:p.Asn1067LysfsTer3
ENST00000423156.2:c.2186-11192_2186-11191insGGAG	ENSP00000390925.2:n.2186-11192_2186-11191insGGAG
ENST00000455470.6:c.2431+769_2431+770insGGAG	ENSP00000406565.2:n.2431+769_2431+770insGGAG
ENST00000382292.7:c.3200_3201insGGAG	ENSP00000371729.3:p.Asn1067LysfsTer3
ENST00000382298.7:c.3200_3201insGGAG	ENSP00000371735.3:p.Asn1067LysfsTer3
ENST00000402364.1:c.950_951insGGAG	ENSP00000385844.1:p.Asn317LysfsTer3
ENST00000423156.1:c.1058-11192_1058-11191insGGAG	ENSP00000390925.1:n.1058-11192_1058-11191insGGAG
ENST00000455470.5:c.2129+769_2129+770insGGAG
NM_001278055.1:c.2759_2760insGGAG	NP_001264984.1:p.Asn920LysfsTer3
NM_014363.5:c.3200_3201insGGAG	NP_055178.3:p.Asn1067LysfsTer3
XM_005266338.1:c.3227_3228insGGAG	XP_005266395.1:p.Asn1076LysfsTer3
XM_011535038.1:c.3251_3252insGGAG	XP_011533340.1:p.Asn1084LysfsTer3
XM_011535039.1:c.3218_3219insGGAG	XP_011533341.1:p.Asn1073LysfsTer3
XM_005266338.2:c.3227_3228insGGAG	XP_005266395.1:p.Asn1076LysfsTer3
XM_011535039.2:c.3218_3219insGGAG	XP_011533341.1:p.Asn1073LysfsTer3
XM_017020539.1:c.3191_3192insGGAG	XP_016876028.1:p.Asn1064LysfsTer3
XM_024449337.1:c.3227_3228insGGAG	XP_024305105.1:p.Asn1076LysfsTer3
NM_014363.6:c.3200_3201insGGAG MANE Select	NP_055178.3:p.Asn1067LysfsTer3
NM_001278055.2:c.2759_2760insGGAG	NP_001264984.1:p.Asn920LysfsTer3