Canonical Allele Identifier: CA2499221969

Gene: SACS

Linked Data

• ClinVar Variation Id: 1075038
• ClinVar RCV Id: RCV001388519
• dbSNP Id: rs2137550994

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330667_23330668del , CM000675.2:g.23330667_23330668del	GRCh38
NC_000013.10:g.23904806_23904807del , CM000675.1:g.23904806_23904807del	GRCh37
NC_000013.9:g.22802806_22802807del	NCBI36
NG_012342.1:g.108035_108036del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18553_2186-18552del	ENSP00000508399.1:n.2186-18553_2186-18552del
ENST00000682944.1:c.13235_13236del	ENSP00000507173.1:p.Gln4412ArgfsTer6
ENST00000683210.1:c.2185+23117_2185+23118del	ENSP00000506739.1:n.2185+23117_2185+23118del
ENST00000683270.1:c.6446-1184_6446-1183del	ENSP00000507624.1:n.6446-1184_6446-1183del
ENST00000683367.1:c.2177-1184_2177-1183del	ENSP00000507780.1:n.2177-1184_2177-1183del
ENST00000683489.1:c.2292-716_2292-715del	ENSP00000508403.1:n.2292-716_2292-715del
ENST00000683680.1:c.2319-716_2319-715del	ENSP00000507223.1:n.2319-716_2319-715del
ENST00000684163.1:c.2204-1184_2204-1183del	ENSP00000508262.1:n.2204-1184_2204-1183del
ENST00000684196.1:n.4543-1184_4543-1183del
ENST00000684325.1:c.2186-8994_2186-8993del	ENSP00000508121.1:n.2186-8994_2186-8993del
ENST00000684385.1:c.2221-1184_2221-1183del	ENSP00000507855.1:n.2221-1184_2221-1183del
ENST00000684497.1:c.2186-8024_2186-8023del	ENSP00000507057.1:n.2186-8024_2186-8023del
ENST00000382292.9:c.13208_13209del MANE Select	ENSP00000371729.3:p.Gln4403ArgfsTer6
ENST00000423156.2:c.2186-1184_2186-1183del	ENSP00000390925.2:n.2186-1184_2186-1183del
ENST00000455470.6:c.2432-1184_2432-1183del	ENSP00000406565.2:n.2432-1184_2432-1183del
ENST00000382292.7:c.13208_13209del	ENSP00000371729.3:p.Gln4403ArgfsTer6
ENST00000382298.7:c.13208_13209del	ENSP00000371735.3:p.Gln4403ArgfsTer6
ENST00000402364.1:c.10958_10959del	ENSP00000385844.1:p.Gln3653ArgfsTer6
ENST00000423156.1:c.1058-1184_1058-1183del	ENSP00000390925.1:n.1058-1184_1058-1183del
ENST00000455470.5:c.2130-1184_2130-1183del
NM_001278055.1:c.12767_12768del	NP_001264984.1:p.Gln4256ArgfsTer6
NM_014363.5:c.13208_13209del	NP_055178.3:p.Gln4403ArgfsTer6
XM_005266338.1:c.13235_13236del	XP_005266395.1:p.Gln4412ArgfsTer6
XM_011535038.1:c.13259_13260del	XP_011533340.1:p.Gln4420ArgfsTer6
XM_011535039.1:c.13226_13227del	XP_011533341.1:p.Gln4409ArgfsTer6
XM_005266338.2:c.13235_13236del	XP_005266395.1:p.Gln4412ArgfsTer6
XM_011535039.2:c.13226_13227del	XP_011533341.1:p.Gln4409ArgfsTer6
XM_017020539.1:c.13199_13200del	XP_016876028.1:p.Gln4400ArgfsTer6
XM_024449337.1:c.13235_13236del	XP_024305105.1:p.Gln4412ArgfsTer6
NM_014363.6:c.13208_13209del MANE Select	NP_055178.3:p.Gln4403ArgfsTer6
NM_001278055.2:c.12767_12768del	NP_001264984.1:p.Gln4256ArgfsTer6