Canonical Allele Identifier: CA2622328918

Gene: SACS

Linked Data

• gnomAD v4: 13-23334161-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334165del , CM000675.2:g.23334165del	GRCh38
NC_000013.10:g.23908304del , CM000675.1:g.23908304del	GRCh37
NC_000013.9:g.22806304del	NCBI36
NG_012342.1:g.104541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19623del	ENSP00000508399.1:n.2185+19623del
ENST00000682944.1:c.9741del	ENSP00000507173.1:p.Phe3247LeufsTer18
ENST00000683210.1:c.2185+19623del	ENSP00000506739.1:n.2185+19623del
ENST00000683270.1:c.6445+3260del	ENSP00000507624.1:n.6445+3260del
ENST00000683367.1:c.2177-4678del	ENSP00000507780.1:n.2177-4678del
ENST00000683489.1:c.2292-4210del	ENSP00000508403.1:n.2292-4210del
ENST00000683680.1:c.2319-4210del	ENSP00000507223.1:n.2319-4210del
ENST00000684163.1:c.2204-4678del	ENSP00000508262.1:n.2204-4678del
ENST00000684196.1:n.4543-4678del
ENST00000684325.1:c.2186-12488del	ENSP00000508121.1:n.2186-12488del
ENST00000684385.1:c.2221-4678del	ENSP00000507855.1:n.2221-4678del
ENST00000684497.1:c.2186-11518del	ENSP00000507057.1:n.2186-11518del
ENST00000382292.9:c.9714del MANE Select	ENSP00000371729.3:p.Phe3238LeufsTer18
ENST00000423156.2:c.2186-4678del	ENSP00000390925.2:n.2186-4678del
ENST00000455470.6:c.2432-4678del	ENSP00000406565.2:n.2432-4678del
ENST00000382292.7:c.9714del	ENSP00000371729.3:p.Phe3238LeufsTer18
ENST00000382298.7:c.9714del	ENSP00000371735.3:p.Phe3238LeufsTer18
ENST00000402364.1:c.7464del	ENSP00000385844.1:p.Phe2488LeufsTer18
ENST00000423156.1:c.1058-4678del	ENSP00000390925.1:n.1058-4678del
ENST00000455470.5:c.2130-4678del
NM_001278055.1:c.9273del	NP_001264984.1:p.Phe3091LeufsTer18
NM_014363.5:c.9714del	NP_055178.3:p.Phe3238LeufsTer18
XM_005266338.1:c.9741del	XP_005266395.1:p.Phe3247LeufsTer18
XM_011535038.1:c.9765del	XP_011533340.1:p.Phe3255LeufsTer18
XM_011535039.1:c.9732del	XP_011533341.1:p.Phe3244LeufsTer18
XM_005266338.2:c.9741del	XP_005266395.1:p.Phe3247LeufsTer18
XM_011535039.2:c.9732del	XP_011533341.1:p.Phe3244LeufsTer18
XM_017020539.1:c.9705del	XP_016876028.1:p.Phe3235LeufsTer18
XM_024449337.1:c.9741del	XP_024305105.1:p.Phe3247LeufsTer18
NM_014363.6:c.9714del MANE Select	NP_055178.3:p.Phe3238LeufsTer18
NM_001278055.2:c.9273del	NP_001264984.1:p.Phe3091LeufsTer18