Canonical Allele Identifier: CA2499221975

Gene: SACS

Linked Data

• ClinVar Variation Id: 1069976
• ClinVar RCV Id: RCV001381975 ; RCV003469668
• dbSNP Id: rs2137569412
• gnomAD v4: 13-23332766-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332768del , CM000675.2:g.23332768del	GRCh38
NC_000013.10:g.23906907del , CM000675.1:g.23906907del	GRCh37
NC_000013.9:g.22804907del	NCBI36
NG_012342.1:g.105936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20652del	ENSP00000508399.1:n.2186-20652del
ENST00000682944.1:c.11136del	ENSP00000507173.1:p.Cys3713AlafsTer11
ENST00000683210.1:c.2185+21018del	ENSP00000506739.1:n.2185+21018del
ENST00000683270.1:c.6446-3283del	ENSP00000507624.1:n.6446-3283del
ENST00000683367.1:c.2177-3283del	ENSP00000507780.1:n.2177-3283del
ENST00000683489.1:c.2292-2815del	ENSP00000508403.1:n.2292-2815del
ENST00000683680.1:c.2319-2815del	ENSP00000507223.1:n.2319-2815del
ENST00000684163.1:c.2204-3283del	ENSP00000508262.1:n.2204-3283del
ENST00000684196.1:n.4543-3283del
ENST00000684325.1:c.2186-11093del	ENSP00000508121.1:n.2186-11093del
ENST00000684385.1:c.2221-3283del	ENSP00000507855.1:n.2221-3283del
ENST00000684497.1:c.2186-10123del	ENSP00000507057.1:n.2186-10123del
ENST00000382292.9:c.11109del MANE Select	ENSP00000371729.3:p.Cys3704AlafsTer11
ENST00000423156.2:c.2186-3283del	ENSP00000390925.2:n.2186-3283del
ENST00000455470.6:c.2432-3283del	ENSP00000406565.2:n.2432-3283del
ENST00000382292.7:c.11109del	ENSP00000371729.3:p.Cys3704AlafsTer11
ENST00000382298.7:c.11109del	ENSP00000371735.3:p.Cys3704AlafsTer11
ENST00000402364.1:c.8859del	ENSP00000385844.1:p.Cys2954AlafsTer11
ENST00000423156.1:c.1058-3283del	ENSP00000390925.1:n.1058-3283del
ENST00000455470.5:c.2130-3283del
NM_001278055.1:c.10668del	NP_001264984.1:p.Cys3557AlafsTer11
NM_014363.5:c.11109del	NP_055178.3:p.Cys3704AlafsTer11
XM_005266338.1:c.11136del	XP_005266395.1:p.Cys3713AlafsTer11
XM_011535038.1:c.11160del	XP_011533340.1:p.Cys3721AlafsTer11
XM_011535039.1:c.11127del	XP_011533341.1:p.Cys3710AlafsTer11
XM_005266338.2:c.11136del	XP_005266395.1:p.Cys3713AlafsTer11
XM_011535039.2:c.11127del	XP_011533341.1:p.Cys3710AlafsTer11
XM_017020539.1:c.11100del	XP_016876028.1:p.Cys3701AlafsTer11
XM_024449337.1:c.11136del	XP_024305105.1:p.Cys3713AlafsTer11
NM_014363.6:c.11109del MANE Select	NP_055178.3:p.Cys3704AlafsTer11
NM_001278055.2:c.10668del	NP_001264984.1:p.Cys3557AlafsTer11