Canonical Allele Identifier: CA2078625757

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336586_23336593delinsTTCACTGA , CM000675.2:g.23336586_23336593delinsTTCACTGA	GRCh38
NC_000013.10:g.23910725_23910732delinsTTCACTGA , CM000675.1:g.23910725_23910732delinsTTCACTGA	GRCh37
NC_000013.9:g.22808725_22808732delinsTTCACTGA	NCBI36
NG_012342.1:g.102110_102117delinsTCAGTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17192_2185+17199delinsTCAGTGAA	ENSP00000508399.1:n.2185+17192_2185+17199delinsTCAGTGAA
ENST00000682944.1:c.7310_7317delinsTCAGTGAA	ENSP00000507173.1:p.Ile2437=
ENST00000683210.1:c.2185+17192_2185+17199delinsTCAGTGAA	ENSP00000506739.1:n.2185+17192_2185+17199delinsTCAGTGAA
ENST00000683270.1:c.6445+829_6445+836delinsTCAGTGAA	ENSP00000507624.1:n.6445+829_6445+836delinsTCAGTGAA
ENST00000683367.1:c.2177-7109_2177-7102delinsTCAGTGAA	ENSP00000507780.1:n.2177-7109_2177-7102delinsTCAGTGAA
ENST00000683489.1:c.2291+4992_2291+4999delinsTCAGTGAA	ENSP00000508403.1:n.2291+4992_2291+4999delinsTCAGTGAA
ENST00000683680.1:c.2318+4992_2318+4999delinsTCAGTGAA	ENSP00000507223.1:n.2318+4992_2318+4999delinsTCAGTGAA
ENST00000684163.1:c.2204-7109_2204-7102delinsTCAGTGAA	ENSP00000508262.1:n.2204-7109_2204-7102delinsTCAGTGAA
ENST00000684196.1:n.4543-7109_4543-7102delinsTCAGTGAA
ENST00000684325.1:c.2186-14919_2186-14912delinsTCAGTGAA	ENSP00000508121.1:n.2186-14919_2186-14912delinsTCAGTGAA
ENST00000684385.1:c.2221-7109_2221-7102delinsTCAGTGAA	ENSP00000507855.1:n.2221-7109_2221-7102delinsTCAGTGAA
ENST00000684497.1:c.2186-13949_2186-13942delinsTCAGTGAA	ENSP00000507057.1:n.2186-13949_2186-13942delinsTCAGTGAA
ENST00000382292.9:c.7283_7290delinsTCAGTGAA MANE Select	ENSP00000371729.3:p.Ile2428=
ENST00000423156.2:c.2186-7109_2186-7102delinsTCAGTGAA	ENSP00000390925.2:n.2186-7109_2186-7102delinsTCAGTGAA
ENST00000455470.6:c.2431+4852_2431+4859delinsTCAGTGAA	ENSP00000406565.2:n.2431+4852_2431+4859delinsTCAGTGAA
ENST00000382292.7:c.7283_7290delinsTCAGTGAA	ENSP00000371729.3:p.Ile2428=
ENST00000382298.7:c.7283_7290delinsTCAGTGAA	ENSP00000371735.3:p.Ile2428=
ENST00000402364.1:c.5033_5040delinsTCAGTGAA	ENSP00000385844.1:p.Ile1678=
ENST00000423156.1:c.1058-7109_1058-7102delinsTCAGTGAA	ENSP00000390925.1:n.1058-7109_1058-7102delinsTCAGTGAA
ENST00000455470.5:c.2129+4852_2129+4859delinsTCAGTGAA
NM_001278055.1:c.6842_6849delinsTCAGTGAA	NP_001264984.1:p.Ile2281=
NM_014363.5:c.7283_7290delinsTCAGTGAA	NP_055178.3:p.Ile2428=
XM_005266338.1:c.7310_7317delinsTCAGTGAA	XP_005266395.1:p.Ile2437=
XM_011535038.1:c.7334_7341delinsTCAGTGAA	XP_011533340.1:p.Ile2445=
XM_011535039.1:c.7301_7308delinsTCAGTGAA	XP_011533341.1:p.Ile2434=
XM_005266338.2:c.7310_7317delinsTCAGTGAA	XP_005266395.1:p.Ile2437=
XM_011535039.2:c.7301_7308delinsTCAGTGAA	XP_011533341.1:p.Ile2434=
XM_017020539.1:c.7274_7281delinsTCAGTGAA	XP_016876028.1:p.Ile2425=
XM_024449337.1:c.7310_7317delinsTCAGTGAA	XP_024305105.1:p.Ile2437=
NM_014363.6:c.7283_7290delinsTCAGTGAA MANE Select	NP_055178.3:p.Ile2428=
NM_001278055.2:c.6842_6849delinsTCAGTGAA	NP_001264984.1:p.Ile2281=