Canonical Allele Identifier: CA658823536

Gene: SACS

Linked Data

• ClinVar Variation Id: 554367
• ClinVar RCV Id: RCV000669989
• dbSNP Id: rs1555251840

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337575_23337576delinsG , CM000675.2:g.23337575_23337576delinsG	GRCh38
NC_000013.10:g.23911714_23911715delinsG , CM000675.1:g.23911714_23911715delinsG	GRCh37
NC_000013.9:g.22809714_22809715delinsG	NCBI36
NG_012342.1:g.101127_101128delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16209_2185+16210delinsC	ENSP00000508399.1:n.2185+16209_2185+16210delinsC
ENST00000682944.1:c.6327_6328delinsC	ENSP00000507173.1:p.Ser2110ProfsTer13
ENST00000683210.1:c.2185+16209_2185+16210delinsC	ENSP00000506739.1:n.2185+16209_2185+16210delinsC
ENST00000683270.1:c.6291_6292delinsC	ENSP00000507624.1:p.Ser2098ProfsTer13
ENST00000683367.1:c.2177-8092_2177-8091delinsC	ENSP00000507780.1:n.2177-8092_2177-8091delinsC
ENST00000683489.1:c.2291+4009_2291+4010delinsC	ENSP00000508403.1:n.2291+4009_2291+4010delinsC
ENST00000683680.1:c.2318+4009_2318+4010delinsC	ENSP00000507223.1:n.2318+4009_2318+4010delinsC
ENST00000684163.1:c.2204-8092_2204-8091delinsC	ENSP00000508262.1:n.2204-8092_2204-8091delinsC
ENST00000684196.1:n.4543-8092_4543-8091delinsC
ENST00000684325.1:c.2186-15902_2186-15901delinsC	ENSP00000508121.1:n.2186-15902_2186-15901delinsC
ENST00000684385.1:c.2221-8092_2221-8091delinsC	ENSP00000507855.1:n.2221-8092_2221-8091delinsC
ENST00000684497.1:c.2186-14932_2186-14931delinsC	ENSP00000507057.1:n.2186-14932_2186-14931delinsC
ENST00000382292.9:c.6300_6301delinsC MANE Select	ENSP00000371729.3:p.Ser2101ProfsTer13
ENST00000423156.2:c.2186-8092_2186-8091delinsC	ENSP00000390925.2:n.2186-8092_2186-8091delinsC
ENST00000455470.6:c.2431+3869_2431+3870delinsC	ENSP00000406565.2:n.2431+3869_2431+3870delinsC
ENST00000382292.7:c.6300_6301delinsC	ENSP00000371729.3:p.Ser2101ProfsTer13
ENST00000382298.7:c.6300_6301delinsC	ENSP00000371735.3:p.Ser2101ProfsTer13
ENST00000402364.1:c.4050_4051delinsC	ENSP00000385844.1:p.Ser1351ProfsTer13
ENST00000423156.1:c.1058-8092_1058-8091delinsC	ENSP00000390925.1:n.1058-8092_1058-8091delinsC
ENST00000455470.5:c.2129+3869_2129+3870delinsC
NM_001278055.1:c.5859_5860delinsC	NP_001264984.1:p.Ser1954ProfsTer13
NM_014363.5:c.6300_6301delinsC	NP_055178.3:p.Ser2101ProfsTer13
XM_005266338.1:c.6327_6328delinsC	XP_005266395.1:p.Ser2110ProfsTer13
XM_011535038.1:c.6351_6352delinsC	XP_011533340.1:p.Ser2118ProfsTer13
XM_011535039.1:c.6318_6319delinsC	XP_011533341.1:p.Ser2107ProfsTer13
XM_005266338.2:c.6327_6328delinsC	XP_005266395.1:p.Ser2110ProfsTer13
XM_011535039.2:c.6318_6319delinsC	XP_011533341.1:p.Ser2107ProfsTer13
XM_017020539.1:c.6291_6292delinsC	XP_016876028.1:p.Ser2098ProfsTer13
XM_024449337.1:c.6327_6328delinsC	XP_024305105.1:p.Ser2110ProfsTer13
NM_014363.6:c.6300_6301delinsC MANE Select	NP_055178.3:p.Ser2101ProfsTer13
NM_001278055.2:c.5859_5860delinsC	NP_001264984.1:p.Ser1954ProfsTer13