Canonical Allele Identifier: CA2622328972

Gene: SACS

Linked Data

• ClinVar Variation Id: 2910329
• ClinVar RCV Id: RCV003751382
• gnomAD v4: 13-23333760-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333761dup , CM000675.2:g.23333761dup	GRCh38
NC_000013.10:g.23907900dup , CM000675.1:g.23907900dup	GRCh37
NC_000013.9:g.22805900dup	NCBI36
NG_012342.1:g.104942dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20024dup	ENSP00000508399.1:n.2185+20024dup
ENST00000682944.1:c.10142dup	ENSP00000507173.1:p.Thr3382AsnfsTer3
ENST00000683210.1:c.2185+20024dup	ENSP00000506739.1:n.2185+20024dup
ENST00000683270.1:c.6445+3661dup	ENSP00000507624.1:n.6445+3661dup
ENST00000683367.1:c.2177-4277dup	ENSP00000507780.1:n.2177-4277dup
ENST00000683489.1:c.2292-3809dup	ENSP00000508403.1:n.2292-3809dup
ENST00000683680.1:c.2319-3809dup	ENSP00000507223.1:n.2319-3809dup
ENST00000684163.1:c.2204-4277dup	ENSP00000508262.1:n.2204-4277dup
ENST00000684196.1:n.4543-4277dup
ENST00000684325.1:c.2186-12087dup	ENSP00000508121.1:n.2186-12087dup
ENST00000684385.1:c.2221-4277dup	ENSP00000507855.1:n.2221-4277dup
ENST00000684497.1:c.2186-11117dup	ENSP00000507057.1:n.2186-11117dup
ENST00000382292.9:c.10115dup MANE Select	ENSP00000371729.3:p.Thr3373AsnfsTer3
ENST00000423156.2:c.2186-4277dup	ENSP00000390925.2:n.2186-4277dup
ENST00000455470.6:c.2432-4277dup	ENSP00000406565.2:n.2432-4277dup
ENST00000382292.7:c.10115dup	ENSP00000371729.3:p.Thr3373AsnfsTer3
ENST00000382298.7:c.10115dup	ENSP00000371735.3:p.Thr3373AsnfsTer3
ENST00000402364.1:c.7865dup	ENSP00000385844.1:p.Thr2623AsnfsTer3
ENST00000423156.1:c.1058-4277dup	ENSP00000390925.1:n.1058-4277dup
ENST00000455470.5:c.2130-4277dup
NM_001278055.1:c.9674dup	NP_001264984.1:p.Thr3226AsnfsTer3
NM_014363.5:c.10115dup	NP_055178.3:p.Thr3373AsnfsTer3
XM_005266338.1:c.10142dup	XP_005266395.1:p.Thr3382AsnfsTer3
XM_011535038.1:c.10166dup	XP_011533340.1:p.Thr3390AsnfsTer3
XM_011535039.1:c.10133dup	XP_011533341.1:p.Thr3379AsnfsTer3
XM_005266338.2:c.10142dup	XP_005266395.1:p.Thr3382AsnfsTer3
XM_011535039.2:c.10133dup	XP_011533341.1:p.Thr3379AsnfsTer3
XM_017020539.1:c.10106dup	XP_016876028.1:p.Thr3370AsnfsTer3
XM_024449337.1:c.10142dup	XP_024305105.1:p.Thr3382AsnfsTer3
NM_014363.6:c.10115dup MANE Select	NP_055178.3:p.Thr3373AsnfsTer3
NM_001278055.2:c.9674dup	NP_001264984.1:p.Thr3226AsnfsTer3