Canonical Allele Identifier: CA2078628985

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331036_23331037delinsGA , CM000675.2:g.23331036_23331037delinsGA	GRCh38
NC_000013.10:g.23905175_23905176delinsGA , CM000675.1:g.23905175_23905176delinsGA	GRCh37
NC_000013.9:g.22803175_22803176delinsGA	NCBI36
NG_012342.1:g.107666_107667delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18922_2186-18921delinsTC	ENSP00000508399.1:n.2186-18922_2186-18921delinsTC
ENST00000682944.1:c.12866_12867delinsTC	ENSP00000507173.1:p.Phe4289=
ENST00000683210.1:c.2185+22748_2185+22749delinsTC	ENSP00000506739.1:n.2185+22748_2185+22749delinsTC
ENST00000683270.1:c.6446-1553_6446-1552delinsTC	ENSP00000507624.1:n.6446-1553_6446-1552delinsTC
ENST00000683367.1:c.2177-1553_2177-1552delinsTC	ENSP00000507780.1:n.2177-1553_2177-1552delinsTC
ENST00000683489.1:c.2292-1085_2292-1084delinsTC	ENSP00000508403.1:n.2292-1085_2292-1084delinsTC
ENST00000683680.1:c.2319-1085_2319-1084delinsTC	ENSP00000507223.1:n.2319-1085_2319-1084delinsTC
ENST00000684163.1:c.2204-1553_2204-1552delinsTC	ENSP00000508262.1:n.2204-1553_2204-1552delinsTC
ENST00000684196.1:n.4543-1553_4543-1552delinsTC
ENST00000684325.1:c.2186-9363_2186-9362delinsTC	ENSP00000508121.1:n.2186-9363_2186-9362delinsTC
ENST00000684385.1:c.2221-1553_2221-1552delinsTC	ENSP00000507855.1:n.2221-1553_2221-1552delinsTC
ENST00000684497.1:c.2186-8393_2186-8392delinsTC	ENSP00000507057.1:n.2186-8393_2186-8392delinsTC
ENST00000382292.9:c.12839_12840delinsTC MANE Select	ENSP00000371729.3:p.Phe4280=
ENST00000423156.2:c.2186-1553_2186-1552delinsTC	ENSP00000390925.2:n.2186-1553_2186-1552delinsTC
ENST00000455470.6:c.2432-1553_2432-1552delinsTC	ENSP00000406565.2:n.2432-1553_2432-1552delinsTC
ENST00000382292.7:c.12839_12840delinsTC	ENSP00000371729.3:p.Phe4280=
ENST00000382298.7:c.12839_12840delinsTC	ENSP00000371735.3:p.Phe4280=
ENST00000402364.1:c.10589_10590delinsTC	ENSP00000385844.1:p.Phe3530=
ENST00000423156.1:c.1058-1553_1058-1552delinsTC	ENSP00000390925.1:n.1058-1553_1058-1552delinsTC
ENST00000455470.5:c.2130-1553_2130-1552delinsTC
NM_001278055.1:c.12398_12399delinsTC	NP_001264984.1:p.Phe4133=
NM_014363.5:c.12839_12840delinsTC	NP_055178.3:p.Phe4280=
XM_005266338.1:c.12866_12867delinsTC	XP_005266395.1:p.Phe4289=
XM_011535038.1:c.12890_12891delinsTC	XP_011533340.1:p.Phe4297=
XM_011535039.1:c.12857_12858delinsTC	XP_011533341.1:p.Phe4286=
XM_005266338.2:c.12866_12867delinsTC	XP_005266395.1:p.Phe4289=
XM_011535039.2:c.12857_12858delinsTC	XP_011533341.1:p.Phe4286=
XM_017020539.1:c.12830_12831delinsTC	XP_016876028.1:p.Phe4277=
XM_024449337.1:c.12866_12867delinsTC	XP_024305105.1:p.Phe4289=
NM_014363.6:c.12839_12840delinsTC MANE Select	NP_055178.3:p.Phe4280=
NM_001278055.2:c.12398_12399delinsTC	NP_001264984.1:p.Phe4133=