Canonical Allele Identifier: CA658823476

Gene: SACS

Linked Data

• ClinVar Variation Id: 551072
• ClinVar RCV Id: RCV000666037
• dbSNP Id: rs1555252587
• gnomAD v4: 13-23340242-CT-C
• MyVariant Identifiers: chr13:g.23340243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340247del , CM000675.2:g.23340247del	GRCh38
NC_000013.10:g.23914386del , CM000675.1:g.23914386del	GRCh37
NC_000013.9:g.22812386del	NCBI36
NG_012342.1:g.98460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13542del	ENSP00000508399.1:n.2185+13542del
ENST00000682944.1:c.3660del	ENSP00000507173.1:p.Ala1221HisfsTer2
ENST00000683210.1:c.2185+13542del	ENSP00000506739.1:n.2185+13542del
ENST00000683270.1:c.3624del	ENSP00000507624.1:p.Ala1209HisfsTer2
ENST00000683367.1:c.2177-10759del	ENSP00000507780.1:n.2177-10759del
ENST00000683489.1:c.2291+1342del	ENSP00000508403.1:n.2291+1342del
ENST00000683680.1:c.2318+1342del	ENSP00000507223.1:n.2318+1342del
ENST00000684163.1:c.2203+6568del	ENSP00000508262.1:n.2203+6568del
ENST00000684196.1:n.4543-10759del
ENST00000684325.1:c.2185+13542del	ENSP00000508121.1:n.2185+13542del
ENST00000684385.1:c.2220+6568del	ENSP00000507855.1:n.2220+6568del
ENST00000684497.1:c.2185+13542del	ENSP00000507057.1:n.2185+13542del
ENST00000382292.9:c.3633del MANE Select	ENSP00000371729.3:p.Ala1212HisfsTer2
ENST00000423156.2:c.2186-10759del	ENSP00000390925.2:n.2186-10759del
ENST00000455470.6:c.2431+1202del	ENSP00000406565.2:n.2431+1202del
ENST00000382292.7:c.3633del	ENSP00000371729.3:p.Ala1212HisfsTer2
ENST00000382298.7:c.3633del	ENSP00000371735.3:p.Ala1212HisfsTer2
ENST00000402364.1:c.1383del	ENSP00000385844.1:p.Ala462HisfsTer2
ENST00000423156.1:c.1058-10759del	ENSP00000390925.1:n.1058-10759del
ENST00000455470.5:c.2129+1202del
NM_001278055.1:c.3192del	NP_001264984.1:p.Ala1065HisfsTer2
NM_014363.5:c.3633del	NP_055178.3:p.Ala1212HisfsTer2
XM_005266338.1:c.3660del	XP_005266395.1:p.Ala1221HisfsTer2
XM_011535038.1:c.3684del	XP_011533340.1:p.Ala1229HisfsTer2
XM_011535039.1:c.3651del	XP_011533341.1:p.Ala1218HisfsTer2
XM_005266338.2:c.3660del	XP_005266395.1:p.Ala1221HisfsTer2
XM_011535039.2:c.3651del	XP_011533341.1:p.Ala1218HisfsTer2
XM_017020539.1:c.3624del	XP_016876028.1:p.Ala1209HisfsTer2
XM_024449337.1:c.3660del	XP_024305105.1:p.Ala1221HisfsTer2
NM_014363.6:c.3633del MANE Select	NP_055178.3:p.Ala1212HisfsTer2
NM_001278055.2:c.3192del	NP_001264984.1:p.Ala1065HisfsTer2