Canonical Allele Identifier: CA2622329025

Gene: SACS

Linked Data

• gnomAD v4: 13-23336825-TCTCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336826_23336831del , CM000675.2:g.23336826_23336831del	GRCh38
NC_000013.10:g.23910965_23910970del , CM000675.1:g.23910965_23910970del	GRCh37
NC_000013.9:g.22808965_22808970del	NCBI36
NG_012342.1:g.101872_101877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16954_2185+16959del	ENSP00000508399.1:n.2185+16954_2185+16959del
ENST00000682944.1:c.7072_7077del	ENSP00000507173.1:p.Val2358_Glu2359del
ENST00000683210.1:c.2185+16954_2185+16959del	ENSP00000506739.1:n.2185+16954_2185+16959del
ENST00000683270.1:c.6445+591_6445+596del	ENSP00000507624.1:n.6445+591_6445+596del
ENST00000683367.1:c.2177-7347_2177-7342del	ENSP00000507780.1:n.2177-7347_2177-7342del
ENST00000683489.1:c.2291+4754_2291+4759del	ENSP00000508403.1:n.2291+4754_2291+4759del
ENST00000683680.1:c.2318+4754_2318+4759del	ENSP00000507223.1:n.2318+4754_2318+4759del
ENST00000684163.1:c.2204-7347_2204-7342del	ENSP00000508262.1:n.2204-7347_2204-7342del
ENST00000684196.1:n.4543-7347_4543-7342del
ENST00000684325.1:c.2186-15157_2186-15152del	ENSP00000508121.1:n.2186-15157_2186-15152del
ENST00000684385.1:c.2221-7347_2221-7342del	ENSP00000507855.1:n.2221-7347_2221-7342del
ENST00000684497.1:c.2186-14187_2186-14182del	ENSP00000507057.1:n.2186-14187_2186-14182del
ENST00000382292.9:c.7045_7050del MANE Select	ENSP00000371729.3:p.Val2349_Glu2350del
ENST00000423156.2:c.2186-7347_2186-7342del	ENSP00000390925.2:n.2186-7347_2186-7342del
ENST00000455470.6:c.2431+4614_2431+4619del	ENSP00000406565.2:n.2431+4614_2431+4619del
ENST00000382292.7:c.7045_7050del	ENSP00000371729.3:p.Val2349_Glu2350del
ENST00000382298.7:c.7045_7050del	ENSP00000371735.3:p.Val2349_Glu2350del
ENST00000402364.1:c.4795_4800del	ENSP00000385844.1:p.Val1599_Glu1600del
ENST00000423156.1:c.1058-7347_1058-7342del	ENSP00000390925.1:n.1058-7347_1058-7342del
ENST00000455470.5:c.2129+4614_2129+4619del
NM_001278055.1:c.6604_6609del	NP_001264984.1:p.Val2202_Glu2203del
NM_014363.5:c.7045_7050del	NP_055178.3:p.Val2349_Glu2350del
XM_005266338.1:c.7072_7077del	XP_005266395.1:p.Val2358_Glu2359del
XM_011535038.1:c.7096_7101del	XP_011533340.1:p.Val2366_Glu2367del
XM_011535039.1:c.7063_7068del	XP_011533341.1:p.Val2355_Glu2356del
XM_005266338.2:c.7072_7077del	XP_005266395.1:p.Val2358_Glu2359del
XM_011535039.2:c.7063_7068del	XP_011533341.1:p.Val2355_Glu2356del
XM_017020539.1:c.7036_7041del	XP_016876028.1:p.Val2346_Glu2347del
XM_024449337.1:c.7072_7077del	XP_024305105.1:p.Val2358_Glu2359del
NM_014363.6:c.7045_7050del MANE Select	NP_055178.3:p.Val2349_Glu2350del
NM_001278055.2:c.6604_6609del	NP_001264984.1:p.Val2202_Glu2203del