Canonical Allele Identifier: CA2078623392

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335461_23335462delinsAG , CM000675.2:g.23335461_23335462delinsAG	GRCh38
NC_000013.10:g.23909600_23909601delinsAG , CM000675.1:g.23909600_23909601delinsAG	GRCh37
NC_000013.9:g.22807600_22807601delinsAG	NCBI36
NG_012342.1:g.103241_103242delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18323_2185+18324delinsCT	ENSP00000508399.1:n.2185+18323_2185+18324delinsCT
ENST00000682944.1:c.8441_8442delinsCT	ENSP00000507173.1:p.Thr2814=
ENST00000683210.1:c.2185+18323_2185+18324delinsCT	ENSP00000506739.1:n.2185+18323_2185+18324delinsCT
ENST00000683270.1:c.6445+1960_6445+1961delinsCT	ENSP00000507624.1:n.6445+1960_6445+1961delinsCT
ENST00000683367.1:c.2177-5978_2177-5977delinsCT	ENSP00000507780.1:n.2177-5978_2177-5977delinsCT
ENST00000683489.1:c.2292-5510_2292-5509delinsCT	ENSP00000508403.1:n.2292-5510_2292-5509delinsCT
ENST00000683680.1:c.2319-5510_2319-5509delinsCT	ENSP00000507223.1:n.2319-5510_2319-5509delinsCT
ENST00000684163.1:c.2204-5978_2204-5977delinsCT	ENSP00000508262.1:n.2204-5978_2204-5977delinsCT
ENST00000684196.1:n.4543-5978_4543-5977delinsCT
ENST00000684325.1:c.2186-13788_2186-13787delinsCT	ENSP00000508121.1:n.2186-13788_2186-13787delinsCT
ENST00000684385.1:c.2221-5978_2221-5977delinsCT	ENSP00000507855.1:n.2221-5978_2221-5977delinsCT
ENST00000684497.1:c.2186-12818_2186-12817delinsCT	ENSP00000507057.1:n.2186-12818_2186-12817delinsCT
ENST00000382292.9:c.8414_8415delinsCT MANE Select	ENSP00000371729.3:p.Thr2805=
ENST00000423156.2:c.2186-5978_2186-5977delinsCT	ENSP00000390925.2:n.2186-5978_2186-5977delinsCT
ENST00000455470.6:c.2432-5978_2432-5977delinsCT	ENSP00000406565.2:n.2432-5978_2432-5977delinsCT
ENST00000382292.7:c.8414_8415delinsCT	ENSP00000371729.3:p.Thr2805=
ENST00000382298.7:c.8414_8415delinsCT	ENSP00000371735.3:p.Thr2805=
ENST00000402364.1:c.6164_6165delinsCT	ENSP00000385844.1:p.Thr2055=
ENST00000423156.1:c.1058-5978_1058-5977delinsCT	ENSP00000390925.1:n.1058-5978_1058-5977delinsCT
ENST00000455470.5:c.2130-5978_2130-5977delinsCT
NM_001278055.1:c.7973_7974delinsCT	NP_001264984.1:p.Thr2658=
NM_014363.5:c.8414_8415delinsCT	NP_055178.3:p.Thr2805=
XM_005266338.1:c.8441_8442delinsCT	XP_005266395.1:p.Thr2814=
XM_011535038.1:c.8465_8466delinsCT	XP_011533340.1:p.Thr2822=
XM_011535039.1:c.8432_8433delinsCT	XP_011533341.1:p.Thr2811=
XM_005266338.2:c.8441_8442delinsCT	XP_005266395.1:p.Thr2814=
XM_011535039.2:c.8432_8433delinsCT	XP_011533341.1:p.Thr2811=
XM_017020539.1:c.8405_8406delinsCT	XP_016876028.1:p.Thr2802=
XM_024449337.1:c.8441_8442delinsCT	XP_024305105.1:p.Thr2814=
NM_014363.6:c.8414_8415delinsCT MANE Select	NP_055178.3:p.Thr2805=
NM_001278055.2:c.7973_7974delinsCT	NP_001264984.1:p.Thr2658=