Canonical Allele Identifier: CA2078629357

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338440_23338441delinsTG , CM000675.2:g.23338440_23338441delinsTG	GRCh38
NC_000013.10:g.23912579_23912580delinsTG , CM000675.1:g.23912579_23912580delinsTG	GRCh37
NC_000013.9:g.22810579_22810580delinsTG	NCBI36
NG_012342.1:g.100262_100263delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15344_2185+15345delinsCA	ENSP00000508399.1:n.2185+15344_2185+15345delinsCA
ENST00000682944.1:c.5462_5463delinsCA	ENSP00000507173.1:p.Thr1821=
ENST00000683210.1:c.2185+15344_2185+15345delinsCA	ENSP00000506739.1:n.2185+15344_2185+15345delinsCA
ENST00000683270.1:c.5426_5427delinsCA	ENSP00000507624.1:p.Thr1809=
ENST00000683367.1:c.2177-8957_2177-8956delinsCA	ENSP00000507780.1:n.2177-8957_2177-8956delinsCA
ENST00000683489.1:c.2291+3144_2291+3145delinsCA	ENSP00000508403.1:n.2291+3144_2291+3145delinsCA
ENST00000683680.1:c.2318+3144_2318+3145delinsCA	ENSP00000507223.1:n.2318+3144_2318+3145delinsCA
ENST00000684163.1:c.2203+8370_2203+8371delinsCA	ENSP00000508262.1:n.2203+8370_2203+8371delinsCA
ENST00000684196.1:n.4543-8957_4543-8956delinsCA
ENST00000684325.1:c.2185+15344_2185+15345delinsCA	ENSP00000508121.1:n.2185+15344_2185+15345delinsCA
ENST00000684385.1:c.2220+8370_2220+8371delinsCA	ENSP00000507855.1:n.2220+8370_2220+8371delinsCA
ENST00000684497.1:c.2185+15344_2185+15345delinsCA	ENSP00000507057.1:n.2185+15344_2185+15345delinsCA
ENST00000382292.9:c.5435_5436delinsCA MANE Select	ENSP00000371729.3:p.Thr1812=
ENST00000423156.2:c.2186-8957_2186-8956delinsCA	ENSP00000390925.2:n.2186-8957_2186-8956delinsCA
ENST00000455470.6:c.2431+3004_2431+3005delinsCA	ENSP00000406565.2:n.2431+3004_2431+3005delinsCA
ENST00000382292.7:c.5435_5436delinsCA	ENSP00000371729.3:p.Thr1812=
ENST00000382298.7:c.5435_5436delinsCA	ENSP00000371735.3:p.Thr1812=
ENST00000402364.1:c.3185_3186delinsCA	ENSP00000385844.1:p.Thr1062=
ENST00000423156.1:c.1058-8957_1058-8956delinsCA	ENSP00000390925.1:n.1058-8957_1058-8956delinsCA
ENST00000455470.5:c.2129+3004_2129+3005delinsCA
NM_001278055.1:c.4994_4995delinsCA	NP_001264984.1:p.Thr1665=
NM_014363.5:c.5435_5436delinsCA	NP_055178.3:p.Thr1812=
XM_005266338.1:c.5462_5463delinsCA	XP_005266395.1:p.Thr1821=
XM_011535038.1:c.5486_5487delinsCA	XP_011533340.1:p.Thr1829=
XM_011535039.1:c.5453_5454delinsCA	XP_011533341.1:p.Thr1818=
XM_005266338.2:c.5462_5463delinsCA	XP_005266395.1:p.Thr1821=
XM_011535039.2:c.5453_5454delinsCA	XP_011533341.1:p.Thr1818=
XM_017020539.1:c.5426_5427delinsCA	XP_016876028.1:p.Thr1809=
XM_024449337.1:c.5462_5463delinsCA	XP_024305105.1:p.Thr1821=
NM_014363.6:c.5435_5436delinsCA MANE Select	NP_055178.3:p.Thr1812=
NM_001278055.2:c.4994_4995delinsCA	NP_001264984.1:p.Thr1665=