Canonical Allele Identifier: CA2580087132

Gene: SACS

Linked Data

• ClinVar Variation Id: 2027041
• ClinVar RCV Id: RCV002871666

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336855_23336859del , CM000675.2:g.23336855_23336859del	GRCh38
NC_000013.10:g.23910994_23910998del , CM000675.1:g.23910994_23910998del	GRCh37
NC_000013.9:g.22808994_22808998del	NCBI36
NG_012342.1:g.101847_101851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16929_2185+16933del	ENSP00000508399.1:n.2185+16929_2185+16933del
ENST00000682944.1:c.7047_7051del	ENSP00000507173.1:p.Leu2350ThrfsTer3
ENST00000683210.1:c.2185+16929_2185+16933del	ENSP00000506739.1:n.2185+16929_2185+16933del
ENST00000683270.1:c.6445+566_6445+570del	ENSP00000507624.1:n.6445+566_6445+570del
ENST00000683367.1:c.2177-7372_2177-7368del	ENSP00000507780.1:n.2177-7372_2177-7368del
ENST00000683489.1:c.2291+4729_2291+4733del	ENSP00000508403.1:n.2291+4729_2291+4733del
ENST00000683680.1:c.2318+4729_2318+4733del	ENSP00000507223.1:n.2318+4729_2318+4733del
ENST00000684163.1:c.2204-7372_2204-7368del	ENSP00000508262.1:n.2204-7372_2204-7368del
ENST00000684196.1:n.4543-7372_4543-7368del
ENST00000684325.1:c.2186-15182_2186-15178del	ENSP00000508121.1:n.2186-15182_2186-15178del
ENST00000684385.1:c.2221-7372_2221-7368del	ENSP00000507855.1:n.2221-7372_2221-7368del
ENST00000684497.1:c.2186-14212_2186-14208del	ENSP00000507057.1:n.2186-14212_2186-14208del
ENST00000382292.9:c.7020_7024del MANE Select	ENSP00000371729.3:p.Leu2341ThrfsTer3
ENST00000423156.2:c.2186-7372_2186-7368del	ENSP00000390925.2:n.2186-7372_2186-7368del
ENST00000455470.6:c.2431+4589_2431+4593del	ENSP00000406565.2:n.2431+4589_2431+4593del
ENST00000382292.7:c.7020_7024del	ENSP00000371729.3:p.Leu2341ThrfsTer3
ENST00000382298.7:c.7020_7024del	ENSP00000371735.3:p.Leu2341ThrfsTer3
ENST00000402364.1:c.4770_4774del	ENSP00000385844.1:p.Leu1591ThrfsTer3
ENST00000423156.1:c.1058-7372_1058-7368del	ENSP00000390925.1:n.1058-7372_1058-7368del
ENST00000455470.5:c.2129+4589_2129+4593del
NM_001278055.1:c.6579_6583del	NP_001264984.1:p.Leu2194ThrfsTer3
NM_014363.5:c.7020_7024del	NP_055178.3:p.Leu2341ThrfsTer3
XM_005266338.1:c.7047_7051del	XP_005266395.1:p.Leu2350ThrfsTer3
XM_011535038.1:c.7071_7075del	XP_011533340.1:p.Leu2358ThrfsTer3
XM_011535039.1:c.7038_7042del	XP_011533341.1:p.Leu2347ThrfsTer3
XM_005266338.2:c.7047_7051del	XP_005266395.1:p.Leu2350ThrfsTer3
XM_011535039.2:c.7038_7042del	XP_011533341.1:p.Leu2347ThrfsTer3
XM_017020539.1:c.7011_7015del	XP_016876028.1:p.Leu2338ThrfsTer3
XM_024449337.1:c.7047_7051del	XP_024305105.1:p.Leu2350ThrfsTer3
NM_014363.6:c.7020_7024del MANE Select	NP_055178.3:p.Leu2341ThrfsTer3
NM_001278055.2:c.6579_6583del	NP_001264984.1:p.Leu2194ThrfsTer3