Canonical Allele Identifier: CA645591574

Gene: SACS

Linked Data

• COSMIC: COSM5573967 ; COSM5573968

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330692_23330693insA , CM000675.2:g.23330692_23330693insA	GRCh38
NC_000013.10:g.23904831_23904832insA , CM000675.1:g.23904831_23904832insA	GRCh37
NC_000013.9:g.22802831_22802832insA	NCBI36
NG_012342.1:g.108010_108011insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18578_2186-18577insT	ENSP00000508399.1:n.2186-18578_2186-18577insT
ENST00000682944.1:c.13210_13211insT	ENSP00000507173.1:p.Gln4404LeufsTer15
ENST00000683210.1:c.2185+23092_2185+23093insT	ENSP00000506739.1:n.2185+23092_2185+23093insT
ENST00000683270.1:c.6446-1209_6446-1208insT	ENSP00000507624.1:n.6446-1209_6446-1208insT
ENST00000683367.1:c.2177-1209_2177-1208insT	ENSP00000507780.1:n.2177-1209_2177-1208insT
ENST00000683489.1:c.2292-741_2292-740insT	ENSP00000508403.1:n.2292-741_2292-740insT
ENST00000683680.1:c.2319-741_2319-740insT	ENSP00000507223.1:n.2319-741_2319-740insT
ENST00000684163.1:c.2204-1209_2204-1208insT	ENSP00000508262.1:n.2204-1209_2204-1208insT
ENST00000684196.1:n.4543-1209_4543-1208insT
ENST00000684325.1:c.2186-9019_2186-9018insT	ENSP00000508121.1:n.2186-9019_2186-9018insT
ENST00000684385.1:c.2221-1209_2221-1208insT	ENSP00000507855.1:n.2221-1209_2221-1208insT
ENST00000684497.1:c.2186-8049_2186-8048insT	ENSP00000507057.1:n.2186-8049_2186-8048insT
ENST00000382292.9:c.13183_13184insT MANE Select	ENSP00000371729.3:p.Gln4395LeufsTer15
ENST00000423156.2:c.2186-1209_2186-1208insT	ENSP00000390925.2:n.2186-1209_2186-1208insT
ENST00000455470.6:c.2432-1209_2432-1208insT	ENSP00000406565.2:n.2432-1209_2432-1208insT
ENST00000382292.7:c.13183_13184insT	ENSP00000371729.3:p.Gln4395LeufsTer15
ENST00000382298.7:c.13183_13184insT	ENSP00000371735.3:p.Gln4395LeufsTer15
ENST00000402364.1:c.10933_10934insT	ENSP00000385844.1:p.Gln3645LeufsTer15
ENST00000423156.1:c.1058-1209_1058-1208insT	ENSP00000390925.1:n.1058-1209_1058-1208insT
ENST00000455470.5:c.2130-1209_2130-1208insT
NM_001278055.1:c.12742_12743insT	NP_001264984.1:p.Gln4248LeufsTer15
NM_014363.5:c.13183_13184insT	NP_055178.3:p.Gln4395LeufsTer15
XM_005266338.1:c.13210_13211insT	XP_005266395.1:p.Gln4404LeufsTer15
XM_011535038.1:c.13234_13235insT	XP_011533340.1:p.Gln4412LeufsTer15
XM_011535039.1:c.13201_13202insT	XP_011533341.1:p.Gln4401LeufsTer15
XM_005266338.2:c.13210_13211insT	XP_005266395.1:p.Gln4404LeufsTer15
XM_011535039.2:c.13201_13202insT	XP_011533341.1:p.Gln4401LeufsTer15
XM_017020539.1:c.13174_13175insT	XP_016876028.1:p.Gln4392LeufsTer15
XM_024449337.1:c.13210_13211insT	XP_024305105.1:p.Gln4404LeufsTer15
NM_014363.6:c.13183_13184insT MANE Select	NP_055178.3:p.Gln4395LeufsTer15
NM_001278055.2:c.12742_12743insT	NP_001264984.1:p.Gln4248LeufsTer15