Canonical Allele Identifier: CA2798500435

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330778_23330779insACAG , CM000675.2:g.23330778_23330779insACAG	GRCh38
NC_000013.10:g.23904917_23904918insACAG , CM000675.1:g.23904917_23904918insACAG	GRCh37
NC_000013.9:g.22802917_22802918insACAG	NCBI36
NG_012342.1:g.107924_107925insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18664_2186-18663insCTGT	ENSP00000508399.1:n.2186-18664_2186-18663insCTGT
ENST00000682944.1:c.13124_13125insCTGT	ENSP00000507173.1:p.Phe4376CysfsTer?
ENST00000683210.1:c.2185+23006_2185+23007insCTGT	ENSP00000506739.1:n.2185+23006_2185+23007insCTGT
ENST00000683270.1:c.6446-1295_6446-1294insCTGT	ENSP00000507624.1:n.6446-1295_6446-1294insCTGT
ENST00000683367.1:c.2177-1295_2177-1294insCTGT	ENSP00000507780.1:n.2177-1295_2177-1294insCTGT
ENST00000683489.1:c.2292-827_2292-826insCTGT	ENSP00000508403.1:n.2292-827_2292-826insCTGT
ENST00000683680.1:c.2319-827_2319-826insCTGT	ENSP00000507223.1:n.2319-827_2319-826insCTGT
ENST00000684163.1:c.2204-1295_2204-1294insCTGT	ENSP00000508262.1:n.2204-1295_2204-1294insCTGT
ENST00000684196.1:n.4543-1295_4543-1294insCTGT
ENST00000684325.1:c.2186-9105_2186-9104insCTGT	ENSP00000508121.1:n.2186-9105_2186-9104insCTGT
ENST00000684385.1:c.2221-1295_2221-1294insCTGT	ENSP00000507855.1:n.2221-1295_2221-1294insCTGT
ENST00000684497.1:c.2186-8135_2186-8134insCTGT	ENSP00000507057.1:n.2186-8135_2186-8134insCTGT
ENST00000382292.9:c.13097_13098insCTGT MANE Select	ENSP00000371729.3:p.Phe4367CysfsTer?
ENST00000423156.2:c.2186-1295_2186-1294insCTGT	ENSP00000390925.2:n.2186-1295_2186-1294insCTGT
ENST00000455470.6:c.2432-1295_2432-1294insCTGT	ENSP00000406565.2:n.2432-1295_2432-1294insCTGT
ENST00000382292.7:c.13097_13098insCTGT	ENSP00000371729.3:p.Phe4367CysfsTer?
ENST00000382298.7:c.13097_13098insCTGT	ENSP00000371735.3:p.Phe4367CysfsTer?
ENST00000402364.1:c.10847_10848insCTGT	ENSP00000385844.1:p.Phe3617CysfsTer?
ENST00000423156.1:c.1058-1295_1058-1294insCTGT	ENSP00000390925.1:n.1058-1295_1058-1294insCTGT
ENST00000455470.5:c.2130-1295_2130-1294insCTGT
NM_001278055.1:c.12656_12657insCTGT	NP_001264984.1:p.Phe4220CysfsTer?
NM_014363.5:c.13097_13098insCTGT	NP_055178.3:p.Phe4367CysfsTer?
XM_005266338.1:c.13124_13125insCTGT	XP_005266395.1:p.Phe4376CysfsTer?
XM_011535038.1:c.13148_13149insCTGT	XP_011533340.1:p.Phe4384CysfsTer?
XM_011535039.1:c.13115_13116insCTGT	XP_011533341.1:p.Phe4373CysfsTer?
XM_005266338.2:c.13124_13125insCTGT	XP_005266395.1:p.Phe4376CysfsTer?
XM_011535039.2:c.13115_13116insCTGT	XP_011533341.1:p.Phe4373CysfsTer?
XM_017020539.1:c.13088_13089insCTGT	XP_016876028.1:p.Phe4364CysfsTer?
XM_024449337.1:c.13124_13125insCTGT	XP_024305105.1:p.Phe4376CysfsTer?
NM_014363.6:c.13097_13098insCTGT MANE Select	NP_055178.3:p.Phe4367CysfsTer?
NM_001278055.2:c.12656_12657insCTGT	NP_001264984.1:p.Phe4220CysfsTer?