Canonical Allele Identifier: CA658823551

Gene: SACS

Linked Data

• ClinVar Variation Id: 555886
• ClinVar RCV Id: RCV000671797
• dbSNP Id: rs1555251963
• MyVariant Identifiers: chr13:g.23337885_23337886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337887_23337888del , CM000675.2:g.23337887_23337888del	GRCh38
NC_000013.10:g.23912026_23912027del , CM000675.1:g.23912026_23912027del	GRCh37
NC_000013.9:g.22810026_22810027del	NCBI36
NG_012342.1:g.100817_100818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15899_2185+15900del	ENSP00000508399.1:n.2185+15899_2185+15900del
ENST00000682944.1:c.6017_6018del	ENSP00000507173.1:p.Ser2006TyrfsTer3
ENST00000683210.1:c.2185+15899_2185+15900del	ENSP00000506739.1:n.2185+15899_2185+15900del
ENST00000683270.1:c.5981_5982del	ENSP00000507624.1:p.Ser1994TyrfsTer3
ENST00000683367.1:c.2177-8402_2177-8401del	ENSP00000507780.1:n.2177-8402_2177-8401del
ENST00000683489.1:c.2291+3699_2291+3700del	ENSP00000508403.1:n.2291+3699_2291+3700del
ENST00000683680.1:c.2318+3699_2318+3700del	ENSP00000507223.1:n.2318+3699_2318+3700del
ENST00000684163.1:c.2204-8402_2204-8401del	ENSP00000508262.1:n.2204-8402_2204-8401del
ENST00000684196.1:n.4543-8402_4543-8401del
ENST00000684325.1:c.2185+15899_2185+15900del	ENSP00000508121.1:n.2185+15899_2185+15900del
ENST00000684385.1:c.2221-8402_2221-8401del	ENSP00000507855.1:n.2221-8402_2221-8401del
ENST00000684497.1:c.2186-15242_2186-15241del	ENSP00000507057.1:n.2186-15242_2186-15241del
ENST00000382292.9:c.5990_5991del MANE Select	ENSP00000371729.3:p.Ser1997TyrfsTer3
ENST00000423156.2:c.2186-8402_2186-8401del	ENSP00000390925.2:n.2186-8402_2186-8401del
ENST00000455470.6:c.2431+3559_2431+3560del	ENSP00000406565.2:n.2431+3559_2431+3560del
ENST00000382292.7:c.5990_5991del	ENSP00000371729.3:p.Ser1997TyrfsTer3
ENST00000382298.7:c.5990_5991del	ENSP00000371735.3:p.Ser1997TyrfsTer3
ENST00000402364.1:c.3740_3741del	ENSP00000385844.1:p.Ser1247TyrfsTer3
ENST00000423156.1:c.1058-8402_1058-8401del	ENSP00000390925.1:n.1058-8402_1058-8401del
ENST00000455470.5:c.2129+3559_2129+3560del
NM_001278055.1:c.5549_5550del	NP_001264984.1:p.Ser1850TyrfsTer3
NM_014363.5:c.5990_5991del	NP_055178.3:p.Ser1997TyrfsTer3
XM_005266338.1:c.6017_6018del	XP_005266395.1:p.Ser2006TyrfsTer3
XM_011535038.1:c.6041_6042del	XP_011533340.1:p.Ser2014TyrfsTer3
XM_011535039.1:c.6008_6009del	XP_011533341.1:p.Ser2003TyrfsTer3
XM_005266338.2:c.6017_6018del	XP_005266395.1:p.Ser2006TyrfsTer3
XM_011535039.2:c.6008_6009del	XP_011533341.1:p.Ser2003TyrfsTer3
XM_017020539.1:c.5981_5982del	XP_016876028.1:p.Ser1994TyrfsTer3
XM_024449337.1:c.6017_6018del	XP_024305105.1:p.Ser2006TyrfsTer3
NM_014363.6:c.5990_5991del MANE Select	NP_055178.3:p.Ser1997TyrfsTer3
NM_001278055.2:c.5549_5550del	NP_001264984.1:p.Ser1850TyrfsTer3