Canonical Allele Identifier: CA2622328945

Gene: SACS

Linked Data

• gnomAD v4: 13-23334857-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334858dup , CM000675.2:g.23334858dup	GRCh38
NC_000013.10:g.23908997dup , CM000675.1:g.23908997dup	GRCh37
NC_000013.9:g.22806997dup	NCBI36
NG_012342.1:g.103845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18927dup	ENSP00000508399.1:n.2185+18927dup
ENST00000682944.1:c.9045dup	ENSP00000507173.1:p.His3016AlafsTer15
ENST00000683210.1:c.2185+18927dup	ENSP00000506739.1:n.2185+18927dup
ENST00000683270.1:c.6445+2564dup	ENSP00000507624.1:n.6445+2564dup
ENST00000683367.1:c.2177-5374dup	ENSP00000507780.1:n.2177-5374dup
ENST00000683489.1:c.2292-4906dup	ENSP00000508403.1:n.2292-4906dup
ENST00000683680.1:c.2319-4906dup	ENSP00000507223.1:n.2319-4906dup
ENST00000684163.1:c.2204-5374dup	ENSP00000508262.1:n.2204-5374dup
ENST00000684196.1:n.4543-5374dup
ENST00000684325.1:c.2186-13184dup	ENSP00000508121.1:n.2186-13184dup
ENST00000684385.1:c.2221-5374dup	ENSP00000507855.1:n.2221-5374dup
ENST00000684497.1:c.2186-12214dup	ENSP00000507057.1:n.2186-12214dup
ENST00000382292.9:c.9018dup MANE Select	ENSP00000371729.3:p.His3007AlafsTer15
ENST00000423156.2:c.2186-5374dup	ENSP00000390925.2:n.2186-5374dup
ENST00000455470.6:c.2432-5374dup	ENSP00000406565.2:n.2432-5374dup
ENST00000382292.7:c.9018dup	ENSP00000371729.3:p.His3007AlafsTer15
ENST00000382298.7:c.9018dup	ENSP00000371735.3:p.His3007AlafsTer15
ENST00000402364.1:c.6768dup	ENSP00000385844.1:p.His2257AlafsTer15
ENST00000423156.1:c.1058-5374dup	ENSP00000390925.1:n.1058-5374dup
ENST00000455470.5:c.2130-5374dup
NM_001278055.1:c.8577dup	NP_001264984.1:p.His2860AlafsTer15
NM_014363.5:c.9018dup	NP_055178.3:p.His3007AlafsTer15
XM_005266338.1:c.9045dup	XP_005266395.1:p.His3016AlafsTer15
XM_011535038.1:c.9069dup	XP_011533340.1:p.His3024AlafsTer15
XM_011535039.1:c.9036dup	XP_011533341.1:p.His3013AlafsTer15
XM_005266338.2:c.9045dup	XP_005266395.1:p.His3016AlafsTer15
XM_011535039.2:c.9036dup	XP_011533341.1:p.His3013AlafsTer15
XM_017020539.1:c.9009dup	XP_016876028.1:p.His3004AlafsTer15
XM_024449337.1:c.9045dup	XP_024305105.1:p.His3016AlafsTer15
NM_014363.6:c.9018dup MANE Select	NP_055178.3:p.His3007AlafsTer15
NM_001278055.2:c.8577dup	NP_001264984.1:p.His2860AlafsTer15