Canonical Allele Identifier: CA2078627958

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330497_23330498delinsGC , CM000675.2:g.23330497_23330498delinsGC	GRCh38
NC_000013.10:g.23904636_23904637delinsGC , CM000675.1:g.23904636_23904637delinsGC	GRCh37
NC_000013.9:g.22802636_22802637delinsGC	NCBI36
NG_012342.1:g.108205_108206delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18383_2186-18382delinsGC	ENSP00000508399.1:n.2186-18383_2186-18382delinsGC
ENST00000682944.1:c.13405_13406delinsGC	ENSP00000507173.1:p.Ala4469=
ENST00000683210.1:c.2185+23287_2185+23288delinsGC	ENSP00000506739.1:n.2185+23287_2185+23288delinsGC
ENST00000683270.1:c.6446-1014_6446-1013delinsGC	ENSP00000507624.1:n.6446-1014_6446-1013delinsGC
ENST00000683367.1:c.2177-1014_2177-1013delinsGC	ENSP00000507780.1:n.2177-1014_2177-1013delinsGC
ENST00000683489.1:c.2292-546_2292-545delinsGC	ENSP00000508403.1:n.2292-546_2292-545delinsGC
ENST00000683680.1:c.2319-546_2319-545delinsGC	ENSP00000507223.1:n.2319-546_2319-545delinsGC
ENST00000684163.1:c.2204-1014_2204-1013delinsGC	ENSP00000508262.1:n.2204-1014_2204-1013delinsGC
ENST00000684196.1:n.4543-1014_4543-1013delinsGC
ENST00000684325.1:c.2186-8824_2186-8823delinsGC	ENSP00000508121.1:n.2186-8824_2186-8823delinsGC
ENST00000684385.1:c.2221-1014_2221-1013delinsGC	ENSP00000507855.1:n.2221-1014_2221-1013delinsGC
ENST00000684497.1:c.2186-7854_2186-7853delinsGC	ENSP00000507057.1:n.2186-7854_2186-7853delinsGC
ENST00000382292.9:c.13378_13379delinsGC MANE Select	ENSP00000371729.3:p.Ala4460=
ENST00000423156.2:c.2186-1014_2186-1013delinsGC	ENSP00000390925.2:n.2186-1014_2186-1013delinsGC
ENST00000455470.6:c.2432-1014_2432-1013delinsGC	ENSP00000406565.2:n.2432-1014_2432-1013delinsGC
ENST00000382292.7:c.13378_13379delinsGC	ENSP00000371729.3:p.Ala4460=
ENST00000382298.7:c.13378_13379delinsGC	ENSP00000371735.3:p.Ala4460=
ENST00000402364.1:c.11128_11129delinsGC	ENSP00000385844.1:p.Ala3710=
ENST00000423156.1:c.1058-1014_1058-1013delinsGC	ENSP00000390925.1:n.1058-1014_1058-1013delinsGC
ENST00000455470.5:c.2130-1014_2130-1013delinsGC
NM_001278055.1:c.12937_12938delinsGC	NP_001264984.1:p.Ala4313=
NM_014363.5:c.13378_13379delinsGC	NP_055178.3:p.Ala4460=
XM_005266338.1:c.13405_13406delinsGC	XP_005266395.1:p.Ala4469=
XM_011535038.1:c.13429_13430delinsGC	XP_011533340.1:p.Ala4477=
XM_011535039.1:c.13396_13397delinsGC	XP_011533341.1:p.Ala4466=
XM_005266338.2:c.13405_13406delinsGC	XP_005266395.1:p.Ala4469=
XM_011535039.2:c.13396_13397delinsGC	XP_011533341.1:p.Ala4466=
XM_017020539.1:c.13369_13370delinsGC	XP_016876028.1:p.Ala4457=
XM_024449337.1:c.13405_13406delinsGC	XP_024305105.1:p.Ala4469=
NM_014363.6:c.13378_13379delinsGC MANE Select	NP_055178.3:p.Ala4460=
NM_001278055.2:c.12937_12938delinsGC	NP_001264984.1:p.Ala4313=