Canonical Allele Identifier: CA2078628764

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330905_23330909delinsTCCGA , CM000675.2:g.23330905_23330909delinsTCCGA	GRCh38
NC_000013.10:g.23905044_23905048delinsTCCGA , CM000675.1:g.23905044_23905048delinsTCCGA	GRCh37
NC_000013.9:g.22803044_22803048delinsTCCGA	NCBI36
NG_012342.1:g.107794_107798delinsTCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18794_2186-18790delinsTCGGA	ENSP00000508399.1:n.2186-18794_2186-18790delinsTCGGA
ENST00000682944.1:c.12994_12998delinsTCGGA	ENSP00000507173.1:p.Ser4332=
ENST00000683210.1:c.2185+22876_2185+22880delinsTCGGA	ENSP00000506739.1:n.2185+22876_2185+22880delinsTCGGA
ENST00000683270.1:c.6446-1425_6446-1421delinsTCGGA	ENSP00000507624.1:n.6446-1425_6446-1421delinsTCGGA
ENST00000683367.1:c.2177-1425_2177-1421delinsTCGGA	ENSP00000507780.1:n.2177-1425_2177-1421delinsTCGGA
ENST00000683489.1:c.2292-957_2292-953delinsTCGGA	ENSP00000508403.1:n.2292-957_2292-953delinsTCGGA
ENST00000683680.1:c.2319-957_2319-953delinsTCGGA	ENSP00000507223.1:n.2319-957_2319-953delinsTCGGA
ENST00000684163.1:c.2204-1425_2204-1421delinsTCGGA	ENSP00000508262.1:n.2204-1425_2204-1421delinsTCGGA
ENST00000684196.1:n.4543-1425_4543-1421delinsTCGGA
ENST00000684325.1:c.2186-9235_2186-9231delinsTCGGA	ENSP00000508121.1:n.2186-9235_2186-9231delinsTCGGA
ENST00000684385.1:c.2221-1425_2221-1421delinsTCGGA	ENSP00000507855.1:n.2221-1425_2221-1421delinsTCGGA
ENST00000684497.1:c.2186-8265_2186-8261delinsTCGGA	ENSP00000507057.1:n.2186-8265_2186-8261delinsTCGGA
ENST00000382292.9:c.12967_12971delinsTCGGA MANE Select	ENSP00000371729.3:p.Ser4323=
ENST00000423156.2:c.2186-1425_2186-1421delinsTCGGA	ENSP00000390925.2:n.2186-1425_2186-1421delinsTCGGA
ENST00000455470.6:c.2432-1425_2432-1421delinsTCGGA	ENSP00000406565.2:n.2432-1425_2432-1421delinsTCGGA
ENST00000382292.7:c.12967_12971delinsTCGGA	ENSP00000371729.3:p.Ser4323=
ENST00000382298.7:c.12967_12971delinsTCGGA	ENSP00000371735.3:p.Ser4323=
ENST00000402364.1:c.10717_10721delinsTCGGA	ENSP00000385844.1:p.Ser3573=
ENST00000423156.1:c.1058-1425_1058-1421delinsTCGGA	ENSP00000390925.1:n.1058-1425_1058-1421delinsTCGGA
ENST00000455470.5:c.2130-1425_2130-1421delinsTCGGA
NM_001278055.1:c.12526_12530delinsTCGGA	NP_001264984.1:p.Ser4176=
NM_014363.5:c.12967_12971delinsTCGGA	NP_055178.3:p.Ser4323=
XM_005266338.1:c.12994_12998delinsTCGGA	XP_005266395.1:p.Ser4332=
XM_011535038.1:c.13018_13022delinsTCGGA	XP_011533340.1:p.Ser4340=
XM_011535039.1:c.12985_12989delinsTCGGA	XP_011533341.1:p.Ser4329=
XM_005266338.2:c.12994_12998delinsTCGGA	XP_005266395.1:p.Ser4332=
XM_011535039.2:c.12985_12989delinsTCGGA	XP_011533341.1:p.Ser4329=
XM_017020539.1:c.12958_12962delinsTCGGA	XP_016876028.1:p.Ser4320=
XM_024449337.1:c.12994_12998delinsTCGGA	XP_024305105.1:p.Ser4332=
NM_014363.6:c.12967_12971delinsTCGGA MANE Select	NP_055178.3:p.Ser4323=
NM_001278055.2:c.12526_12530delinsTCGGA	NP_001264984.1:p.Ser4176=