Canonical Allele Identifier: CA2695199218

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678582
• ClinVar RCV Id: RCV003472578

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334289_23334296delinsG , CM000675.2:g.23334289_23334296delinsG	GRCh38
NC_000013.10:g.23908428_23908435delinsG , CM000675.1:g.23908428_23908435delinsG	GRCh37
NC_000013.9:g.22806428_22806435delinsG	NCBI36
NG_012342.1:g.104407_104414delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19489_2185+19496delinsC	ENSP00000508399.1:n.2185+19489_2185+19496delinsC
ENST00000682944.1:c.9607_9614delinsC	ENSP00000507173.1:p.Lys3204ValfsTer5
ENST00000683210.1:c.2185+19489_2185+19496delinsC	ENSP00000506739.1:n.2185+19489_2185+19496delinsC
ENST00000683270.1:c.6445+3126_6445+3133delinsC	ENSP00000507624.1:n.6445+3126_6445+3133delinsC
ENST00000683367.1:c.2177-4812_2177-4805delinsC	ENSP00000507780.1:n.2177-4812_2177-4805delinsC
ENST00000683489.1:c.2292-4344_2292-4337delinsC	ENSP00000508403.1:n.2292-4344_2292-4337delinsC
ENST00000683680.1:c.2319-4344_2319-4337delinsC	ENSP00000507223.1:n.2319-4344_2319-4337delinsC
ENST00000684163.1:c.2204-4812_2204-4805delinsC	ENSP00000508262.1:n.2204-4812_2204-4805delinsC
ENST00000684196.1:n.4543-4812_4543-4805delinsC
ENST00000684325.1:c.2186-12622_2186-12615delinsC	ENSP00000508121.1:n.2186-12622_2186-12615delinsC
ENST00000684385.1:c.2221-4812_2221-4805delinsC	ENSP00000507855.1:n.2221-4812_2221-4805delinsC
ENST00000684497.1:c.2186-11652_2186-11645delinsC	ENSP00000507057.1:n.2186-11652_2186-11645delinsC
ENST00000382292.9:c.9580_9587delinsC MANE Select	ENSP00000371729.3:p.Lys3195ValfsTer5
ENST00000423156.2:c.2186-4812_2186-4805delinsC	ENSP00000390925.2:n.2186-4812_2186-4805delinsC
ENST00000455470.6:c.2432-4812_2432-4805delinsC	ENSP00000406565.2:n.2432-4812_2432-4805delinsC
ENST00000382292.7:c.9580_9587delinsC	ENSP00000371729.3:p.Lys3195ValfsTer5
ENST00000382298.7:c.9580_9587delinsC	ENSP00000371735.3:p.Lys3195ValfsTer5
ENST00000402364.1:c.7330_7337delinsC	ENSP00000385844.1:p.Lys2445ValfsTer5
ENST00000423156.1:c.1058-4812_1058-4805delinsC	ENSP00000390925.1:n.1058-4812_1058-4805delinsC
ENST00000455470.5:c.2130-4812_2130-4805delinsC
NM_001278055.1:c.9139_9146delinsC	NP_001264984.1:p.Lys3048ValfsTer5
NM_014363.5:c.9580_9587delinsC	NP_055178.3:p.Lys3195ValfsTer5
XM_005266338.1:c.9607_9614delinsC	XP_005266395.1:p.Lys3204ValfsTer5
XM_011535038.1:c.9631_9638delinsC	XP_011533340.1:p.Lys3212ValfsTer5
XM_011535039.1:c.9598_9605delinsC	XP_011533341.1:p.Lys3201ValfsTer5
XM_005266338.2:c.9607_9614delinsC	XP_005266395.1:p.Lys3204ValfsTer5
XM_011535039.2:c.9598_9605delinsC	XP_011533341.1:p.Lys3201ValfsTer5
XM_017020539.1:c.9571_9578delinsC	XP_016876028.1:p.Lys3192ValfsTer5
XM_024449337.1:c.9607_9614delinsC	XP_024305105.1:p.Lys3204ValfsTer5
NM_014363.6:c.9580_9587delinsC MANE Select	NP_055178.3:p.Lys3195ValfsTer5
NM_001278055.2:c.9139_9146delinsC	NP_001264984.1:p.Lys3048ValfsTer5