Canonical Allele Identifier: CA2078643832

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341099_23341101delinsATT , CM000675.2:g.23341099_23341101delinsATT	GRCh38
NC_000013.10:g.23915238_23915240delinsATT , CM000675.1:g.23915238_23915240delinsATT	GRCh37
NC_000013.9:g.22813238_22813240delinsATT	NCBI36
NG_012342.1:g.97602_97604delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12684_2185+12686delinsAAT	ENSP00000508399.1:n.2185+12684_2185+12686delinsAAT
ENST00000682944.1:c.2802_2804delinsAAT	ENSP00000507173.1:p.Ala934=
ENST00000683210.1:c.2185+12684_2185+12686delinsAAT	ENSP00000506739.1:n.2185+12684_2185+12686delinsAAT
ENST00000683270.1:c.2766_2768delinsAAT	ENSP00000507624.1:p.Ala922=
ENST00000683367.1:c.2177-11617_2177-11615delinsAAT	ENSP00000507780.1:n.2177-11617_2177-11615delinsAAT
ENST00000683489.1:c.2291+484_2291+486delinsAAT	ENSP00000508403.1:n.2291+484_2291+486delinsAAT
ENST00000683680.1:c.2318+484_2318+486delinsAAT	ENSP00000507223.1:n.2318+484_2318+486delinsAAT
ENST00000684163.1:c.2203+5710_2203+5712delinsAAT	ENSP00000508262.1:n.2203+5710_2203+5712delinsAAT
ENST00000684196.1:n.4543-11617_4543-11615delinsAAT
ENST00000684325.1:c.2185+12684_2185+12686delinsAAT	ENSP00000508121.1:n.2185+12684_2185+12686delinsAAT
ENST00000684385.1:c.2220+5710_2220+5712delinsAAT	ENSP00000507855.1:n.2220+5710_2220+5712delinsAAT
ENST00000684497.1:c.2185+12684_2185+12686delinsAAT	ENSP00000507057.1:n.2185+12684_2185+12686delinsAAT
ENST00000382292.9:c.2775_2777delinsAAT MANE Select	ENSP00000371729.3:p.Ala925=
ENST00000423156.2:c.2186-11617_2186-11615delinsAAT	ENSP00000390925.2:n.2186-11617_2186-11615delinsAAT
ENST00000455470.6:c.2431+344_2431+346delinsAAT	ENSP00000406565.2:n.2431+344_2431+346delinsAAT
ENST00000382292.7:c.2775_2777delinsAAT	ENSP00000371729.3:p.Ala925=
ENST00000382298.7:c.2775_2777delinsAAT	ENSP00000371735.3:p.Ala925=
ENST00000402364.1:c.525_527delinsAAT	ENSP00000385844.1:p.Ala175=
ENST00000423156.1:c.1058-11617_1058-11615delinsAAT	ENSP00000390925.1:n.1058-11617_1058-11615delinsAAT
ENST00000455470.5:c.2129+344_2129+346delinsAAT
NM_001278055.1:c.2334_2336delinsAAT	NP_001264984.1:p.Ala778=
NM_014363.5:c.2775_2777delinsAAT	NP_055178.3:p.Ala925=
XM_005266338.1:c.2802_2804delinsAAT	XP_005266395.1:p.Ala934=
XM_011535038.1:c.2826_2828delinsAAT	XP_011533340.1:p.Ala942=
XM_011535039.1:c.2793_2795delinsAAT	XP_011533341.1:p.Ala931=
XM_005266338.2:c.2802_2804delinsAAT	XP_005266395.1:p.Ala934=
XM_011535039.2:c.2793_2795delinsAAT	XP_011533341.1:p.Ala931=
XM_017020539.1:c.2766_2768delinsAAT	XP_016876028.1:p.Ala922=
XM_024449337.1:c.2802_2804delinsAAT	XP_024305105.1:p.Ala934=
NM_014363.6:c.2775_2777delinsAAT MANE Select	NP_055178.3:p.Ala925=
NM_001278055.2:c.2334_2336delinsAAT	NP_001264984.1:p.Ala778=