Canonical Allele Identifier: CA2078625855

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336616_23336621delinsATTCTC , CM000675.2:g.23336616_23336621delinsATTCTC	GRCh38
NC_000013.10:g.23910755_23910760delinsATTCTC , CM000675.1:g.23910755_23910760delinsATTCTC	GRCh37
NC_000013.9:g.22808755_22808760delinsATTCTC	NCBI36
NG_012342.1:g.102082_102087delinsGAGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17164_2185+17169delinsGAGAAT	ENSP00000508399.1:n.2185+17164_2185+17169delinsGAGAAT
ENST00000682944.1:c.7282_7287delinsGAGAAT	ENSP00000507173.1:p.Glu2428=
ENST00000683210.1:c.2185+17164_2185+17169delinsGAGAAT	ENSP00000506739.1:n.2185+17164_2185+17169delinsGAGAAT
ENST00000683270.1:c.6445+801_6445+806delinsGAGAAT	ENSP00000507624.1:n.6445+801_6445+806delinsGAGAAT
ENST00000683367.1:c.2177-7137_2177-7132delinsGAGAAT	ENSP00000507780.1:n.2177-7137_2177-7132delinsGAGAAT
ENST00000683489.1:c.2291+4964_2291+4969delinsGAGAAT	ENSP00000508403.1:n.2291+4964_2291+4969delinsGAGAAT
ENST00000683680.1:c.2318+4964_2318+4969delinsGAGAAT	ENSP00000507223.1:n.2318+4964_2318+4969delinsGAGAAT
ENST00000684163.1:c.2204-7137_2204-7132delinsGAGAAT	ENSP00000508262.1:n.2204-7137_2204-7132delinsGAGAAT
ENST00000684196.1:n.4543-7137_4543-7132delinsGAGAAT
ENST00000684325.1:c.2186-14947_2186-14942delinsGAGAAT	ENSP00000508121.1:n.2186-14947_2186-14942delinsGAGAAT
ENST00000684385.1:c.2221-7137_2221-7132delinsGAGAAT	ENSP00000507855.1:n.2221-7137_2221-7132delinsGAGAAT
ENST00000684497.1:c.2186-13977_2186-13972delinsGAGAAT	ENSP00000507057.1:n.2186-13977_2186-13972delinsGAGAAT
ENST00000382292.9:c.7255_7260delinsGAGAAT MANE Select	ENSP00000371729.3:p.Glu2419=
ENST00000423156.2:c.2186-7137_2186-7132delinsGAGAAT	ENSP00000390925.2:n.2186-7137_2186-7132delinsGAGAAT
ENST00000455470.6:c.2431+4824_2431+4829delinsGAGAAT	ENSP00000406565.2:n.2431+4824_2431+4829delinsGAGAAT
ENST00000382292.7:c.7255_7260delinsGAGAAT	ENSP00000371729.3:p.Glu2419=
ENST00000382298.7:c.7255_7260delinsGAGAAT	ENSP00000371735.3:p.Glu2419=
ENST00000402364.1:c.5005_5010delinsGAGAAT	ENSP00000385844.1:p.Glu1669=
ENST00000423156.1:c.1058-7137_1058-7132delinsGAGAAT	ENSP00000390925.1:n.1058-7137_1058-7132delinsGAGAAT
ENST00000455470.5:c.2129+4824_2129+4829delinsGAGAAT
NM_001278055.1:c.6814_6819delinsGAGAAT	NP_001264984.1:p.Glu2272=
NM_014363.5:c.7255_7260delinsGAGAAT	NP_055178.3:p.Glu2419=
XM_005266338.1:c.7282_7287delinsGAGAAT	XP_005266395.1:p.Glu2428=
XM_011535038.1:c.7306_7311delinsGAGAAT	XP_011533340.1:p.Glu2436=
XM_011535039.1:c.7273_7278delinsGAGAAT	XP_011533341.1:p.Glu2425=
XM_005266338.2:c.7282_7287delinsGAGAAT	XP_005266395.1:p.Glu2428=
XM_011535039.2:c.7273_7278delinsGAGAAT	XP_011533341.1:p.Glu2425=
XM_017020539.1:c.7246_7251delinsGAGAAT	XP_016876028.1:p.Glu2416=
XM_024449337.1:c.7282_7287delinsGAGAAT	XP_024305105.1:p.Glu2428=
NM_014363.6:c.7255_7260delinsGAGAAT MANE Select	NP_055178.3:p.Glu2419=
NM_001278055.2:c.6814_6819delinsGAGAAT	NP_001264984.1:p.Glu2272=