Canonical Allele Identifier: CA246648512

Gene: SACS

Linked Data

• dbSNP Id: rs34835459
• MyVariant Identifiers: chr13:g.23905362_23905363insC (hg19) ; chr13:g.23331223_23331224insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331223_23331224insC , CM000675.2:g.23331223_23331224insC	GRCh38
NC_000013.10:g.23905362_23905363insC , CM000675.1:g.23905362_23905363insC	GRCh37
NC_000013.9:g.22803362_22803363insC	NCBI36
NG_012342.1:g.107479_107480insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19109_2186-19108insG	ENSP00000508399.1:n.2186-19109_2186-19108insG
ENST00000682944.1:c.12679_12680insG	ENSP00000507173.1:p.Ser4227CysfsTer2
ENST00000683210.1:c.2185+22561_2185+22562insG	ENSP00000506739.1:n.2185+22561_2185+22562insG
ENST00000683270.1:c.6446-1740_6446-1739insG	ENSP00000507624.1:n.6446-1740_6446-1739insG
ENST00000683367.1:c.2177-1740_2177-1739insG	ENSP00000507780.1:n.2177-1740_2177-1739insG
ENST00000683489.1:c.2292-1272_2292-1271insG	ENSP00000508403.1:n.2292-1272_2292-1271insG
ENST00000683680.1:c.2319-1272_2319-1271insG	ENSP00000507223.1:n.2319-1272_2319-1271insG
ENST00000684163.1:c.2204-1740_2204-1739insG	ENSP00000508262.1:n.2204-1740_2204-1739insG
ENST00000684196.1:n.4543-1740_4543-1739insG
ENST00000684325.1:c.2186-9550_2186-9549insG	ENSP00000508121.1:n.2186-9550_2186-9549insG
ENST00000684385.1:c.2221-1740_2221-1739insG	ENSP00000507855.1:n.2221-1740_2221-1739insG
ENST00000684497.1:c.2186-8580_2186-8579insG	ENSP00000507057.1:n.2186-8580_2186-8579insG
ENST00000382292.9:c.12652_12653insG MANE Select	ENSP00000371729.3:p.Ser4218CysfsTer2
ENST00000423156.2:c.2186-1740_2186-1739insG	ENSP00000390925.2:n.2186-1740_2186-1739insG
ENST00000455470.6:c.2432-1740_2432-1739insG	ENSP00000406565.2:n.2432-1740_2432-1739insG
ENST00000382292.7:c.12652_12653insG	ENSP00000371729.3:p.Ser4218CysfsTer2
ENST00000382298.7:c.12652_12653insG	ENSP00000371735.3:p.Ser4218CysfsTer2
ENST00000402364.1:c.10402_10403insG	ENSP00000385844.1:p.Ser3468CysfsTer2
ENST00000423156.1:c.1058-1740_1058-1739insG	ENSP00000390925.1:n.1058-1740_1058-1739insG
ENST00000455470.5:c.2130-1740_2130-1739insG
NM_001278055.1:c.12211_12212insG	NP_001264984.1:p.Ser4071CysfsTer2
NM_014363.5:c.12652_12653insG	NP_055178.3:p.Ser4218CysfsTer2
XM_005266338.1:c.12679_12680insG	XP_005266395.1:p.Ser4227CysfsTer2
XM_011535038.1:c.12703_12704insG	XP_011533340.1:p.Ser4235CysfsTer2
XM_011535039.1:c.12670_12671insG	XP_011533341.1:p.Ser4224CysfsTer2
XM_005266338.2:c.12679_12680insG	XP_005266395.1:p.Ser4227CysfsTer2
XM_011535039.2:c.12670_12671insG	XP_011533341.1:p.Ser4224CysfsTer2
XM_017020539.1:c.12643_12644insG	XP_016876028.1:p.Ser4215CysfsTer2
XM_024449337.1:c.12679_12680insG	XP_024305105.1:p.Ser4227CysfsTer2
NM_014363.6:c.12652_12653insG MANE Select	NP_055178.3:p.Ser4218CysfsTer2
NM_001278055.2:c.12211_12212insG	NP_001264984.1:p.Ser4071CysfsTer2