Canonical Allele Identifier: CA2078631678

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332599_23332602delinsCGTT , CM000675.2:g.23332599_23332602delinsCGTT	GRCh38
NC_000013.10:g.23906738_23906741delinsCGTT , CM000675.1:g.23906738_23906741delinsCGTT	GRCh37
NC_000013.9:g.22804738_22804741delinsCGTT	NCBI36
NG_012342.1:g.106101_106104delinsAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20487_2186-20484delinsAACG	ENSP00000508399.1:n.2186-20487_2186-20484delinsAACG
ENST00000682944.1:c.11301_11304delinsAACG	ENSP00000507173.1:p.Ile3767=
ENST00000683210.1:c.2185+21183_2185+21186delinsAACG	ENSP00000506739.1:n.2185+21183_2185+21186delinsAACG
ENST00000683270.1:c.6446-3118_6446-3115delinsAACG	ENSP00000507624.1:n.6446-3118_6446-3115delinsAACG
ENST00000683367.1:c.2177-3118_2177-3115delinsAACG	ENSP00000507780.1:n.2177-3118_2177-3115delinsAACG
ENST00000683489.1:c.2292-2650_2292-2647delinsAACG	ENSP00000508403.1:n.2292-2650_2292-2647delinsAACG
ENST00000683680.1:c.2319-2650_2319-2647delinsAACG	ENSP00000507223.1:n.2319-2650_2319-2647delinsAACG
ENST00000684163.1:c.2204-3118_2204-3115delinsAACG	ENSP00000508262.1:n.2204-3118_2204-3115delinsAACG
ENST00000684196.1:n.4543-3118_4543-3115delinsAACG
ENST00000684325.1:c.2186-10928_2186-10925delinsAACG	ENSP00000508121.1:n.2186-10928_2186-10925delinsAACG
ENST00000684385.1:c.2221-3118_2221-3115delinsAACG	ENSP00000507855.1:n.2221-3118_2221-3115delinsAACG
ENST00000684497.1:c.2186-9958_2186-9955delinsAACG	ENSP00000507057.1:n.2186-9958_2186-9955delinsAACG
ENST00000382292.9:c.11274_11277delinsAACG MANE Select	ENSP00000371729.3:p.Ile3758=
ENST00000423156.2:c.2186-3118_2186-3115delinsAACG	ENSP00000390925.2:n.2186-3118_2186-3115delinsAACG
ENST00000455470.6:c.2432-3118_2432-3115delinsAACG	ENSP00000406565.2:n.2432-3118_2432-3115delinsAACG
ENST00000382292.7:c.11274_11277delinsAACG	ENSP00000371729.3:p.Ile3758=
ENST00000382298.7:c.11274_11277delinsAACG	ENSP00000371735.3:p.Ile3758=
ENST00000402364.1:c.9024_9027delinsAACG	ENSP00000385844.1:p.Ile3008=
ENST00000423156.1:c.1058-3118_1058-3115delinsAACG	ENSP00000390925.1:n.1058-3118_1058-3115delinsAACG
ENST00000455470.5:c.2130-3118_2130-3115delinsAACG
NM_001278055.1:c.10833_10836delinsAACG	NP_001264984.1:p.Ile3611=
NM_014363.5:c.11274_11277delinsAACG	NP_055178.3:p.Ile3758=
XM_005266338.1:c.11301_11304delinsAACG	XP_005266395.1:p.Ile3767=
XM_011535038.1:c.11325_11328delinsAACG	XP_011533340.1:p.Ile3775=
XM_011535039.1:c.11292_11295delinsAACG	XP_011533341.1:p.Ile3764=
XM_005266338.2:c.11301_11304delinsAACG	XP_005266395.1:p.Ile3767=
XM_011535039.2:c.11292_11295delinsAACG	XP_011533341.1:p.Ile3764=
XM_017020539.1:c.11265_11268delinsAACG	XP_016876028.1:p.Ile3755=
XM_024449337.1:c.11301_11304delinsAACG	XP_024305105.1:p.Ile3767=
NM_014363.6:c.11274_11277delinsAACG MANE Select	NP_055178.3:p.Ile3758=
NM_001278055.2:c.10833_10836delinsAACG	NP_001264984.1:p.Ile3611=