Canonical Allele Identifier: CA2078645139

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341761_23341763delinsAAC , CM000675.2:g.23341761_23341763delinsAAC	GRCh38
NC_000013.10:g.23915900_23915902delinsAAC , CM000675.1:g.23915900_23915902delinsAAC	GRCh37
NC_000013.9:g.22813900_22813902delinsAAC	NCBI36
NG_012342.1:g.96940_96942delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12022_2185+12024delinsGTT	ENSP00000508399.1:n.2185+12022_2185+12024delinsGTT
ENST00000682944.1:c.2213-73_2213-71delinsGTT	ENSP00000507173.1:n.2213-73_2213-71delinsGTT
ENST00000683210.1:c.2185+12022_2185+12024delinsGTT	ENSP00000506739.1:n.2185+12022_2185+12024delinsGTT
ENST00000683270.1:c.2177-73_2177-71delinsGTT	ENSP00000507624.1:n.2177-73_2177-71delinsGTT
ENST00000683367.1:c.2176+12022_2176+12024delinsGTT	ENSP00000507780.1:n.2176+12022_2176+12024delinsGTT
ENST00000683489.1:c.2186-73_2186-71delinsGTT	ENSP00000508403.1:n.2186-73_2186-71delinsGTT
ENST00000683680.1:c.2213-73_2213-71delinsGTT	ENSP00000507223.1:n.2213-73_2213-71delinsGTT
ENST00000684163.1:c.2203+5048_2203+5050delinsGTT	ENSP00000508262.1:n.2203+5048_2203+5050delinsGTT
ENST00000684196.1:n.4542+12022_4542+12024delinsGTT
ENST00000684325.1:c.2185+12022_2185+12024delinsGTT	ENSP00000508121.1:n.2185+12022_2185+12024delinsGTT
ENST00000684385.1:c.2220+5048_2220+5050delinsGTT	ENSP00000507855.1:n.2220+5048_2220+5050delinsGTT
ENST00000684497.1:c.2185+12022_2185+12024delinsGTT	ENSP00000507057.1:n.2185+12022_2185+12024delinsGTT
ENST00000382292.9:c.2186-73_2186-71delinsGTT MANE Select	ENSP00000371729.3:n.2186-73_2186-71delinsGTT
ENST00000423156.2:c.2185+12022_2185+12024delinsGTT	ENSP00000390925.2:n.2185+12022_2185+12024delinsGTT
ENST00000455470.6:c.2186-73_2186-71delinsGTT	ENSP00000406565.2:n.2186-73_2186-71delinsGTT
ENST00000382292.7:c.2186-73_2186-71delinsGTT	ENSP00000371729.3:n.2186-73_2186-71delinsGTT
ENST00000382298.7:c.2186-73_2186-71delinsGTT	ENSP00000371735.3:n.2186-73_2186-71delinsGTT
ENST00000402364.1:c.-65-73_-65-71delinsGTT	ENSP00000385844.1:n.-65-73_-65-71delinsGTT
ENST00000423156.1:c.1057+12022_1057+12024delinsGTT	ENSP00000390925.1:n.1057+12022_1057+12024delinsGTT
ENST00000455470.5:c.1884-73_1884-71delinsGTT
NM_001278055.1:c.1745-73_1745-71delinsGTT	NP_001264984.1:n.1745-73_1745-71delinsGTT
NM_014363.5:c.2186-73_2186-71delinsGTT	NP_055178.3:n.2186-73_2186-71delinsGTT
XM_005266338.1:c.2213-73_2213-71delinsGTT	XP_005266395.1:n.2213-73_2213-71delinsGTT
XM_011535038.1:c.2237-73_2237-71delinsGTT	XP_011533340.1:n.2237-73_2237-71delinsGTT
XM_011535039.1:c.2204-73_2204-71delinsGTT	XP_011533341.1:n.2204-73_2204-71delinsGTT
XM_005266338.2:c.2213-73_2213-71delinsGTT	XP_005266395.1:n.2213-73_2213-71delinsGTT
XM_011535039.2:c.2204-73_2204-71delinsGTT	XP_011533341.1:n.2204-73_2204-71delinsGTT
XM_017020539.1:c.2177-73_2177-71delinsGTT	XP_016876028.1:n.2177-73_2177-71delinsGTT
XM_024449337.1:c.2213-73_2213-71delinsGTT	XP_024305105.1:n.2213-73_2213-71delinsGTT
NM_014363.6:c.2186-73_2186-71delinsGTT MANE Select	NP_055178.3:n.2186-73_2186-71delinsGTT
NM_001278055.2:c.1745-73_1745-71delinsGTT	NP_001264984.1:n.1745-73_1745-71delinsGTT