Canonical Allele Identifier: CA2622328943

Gene: SACS

Linked Data

• gnomAD v4: 13-23333415-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333419dup , CM000675.2:g.23333419dup	GRCh38
NC_000013.10:g.23907558dup , CM000675.1:g.23907558dup	GRCh37
NC_000013.9:g.22805558dup	NCBI36
NG_012342.1:g.105287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20369dup	ENSP00000508399.1:n.2185+20369dup
ENST00000682944.1:c.10487dup	ENSP00000507173.1:p.Asn3496LysfsTer5
ENST00000683210.1:c.2185+20369dup	ENSP00000506739.1:n.2185+20369dup
ENST00000683270.1:c.6446-3932dup	ENSP00000507624.1:n.6446-3932dup
ENST00000683367.1:c.2177-3932dup	ENSP00000507780.1:n.2177-3932dup
ENST00000683489.1:c.2292-3464dup	ENSP00000508403.1:n.2292-3464dup
ENST00000683680.1:c.2319-3464dup	ENSP00000507223.1:n.2319-3464dup
ENST00000684163.1:c.2204-3932dup	ENSP00000508262.1:n.2204-3932dup
ENST00000684196.1:n.4543-3932dup
ENST00000684325.1:c.2186-11742dup	ENSP00000508121.1:n.2186-11742dup
ENST00000684385.1:c.2221-3932dup	ENSP00000507855.1:n.2221-3932dup
ENST00000684497.1:c.2186-10772dup	ENSP00000507057.1:n.2186-10772dup
ENST00000382292.9:c.10460dup MANE Select	ENSP00000371729.3:p.Asn3487LysfsTer5
ENST00000423156.2:c.2186-3932dup	ENSP00000390925.2:n.2186-3932dup
ENST00000455470.6:c.2432-3932dup	ENSP00000406565.2:n.2432-3932dup
ENST00000382292.7:c.10460dup	ENSP00000371729.3:p.Asn3487LysfsTer5
ENST00000382298.7:c.10460dup	ENSP00000371735.3:p.Asn3487LysfsTer5
ENST00000402364.1:c.8210dup	ENSP00000385844.1:p.Asn2737LysfsTer5
ENST00000423156.1:c.1058-3932dup	ENSP00000390925.1:n.1058-3932dup
ENST00000455470.5:c.2130-3932dup
NM_001278055.1:c.10019dup	NP_001264984.1:p.Asn3340LysfsTer5
NM_014363.5:c.10460dup	NP_055178.3:p.Asn3487LysfsTer5
XM_005266338.1:c.10487dup	XP_005266395.1:p.Asn3496LysfsTer5
XM_011535038.1:c.10511dup	XP_011533340.1:p.Asn3504LysfsTer5
XM_011535039.1:c.10478dup	XP_011533341.1:p.Asn3493LysfsTer5
XM_005266338.2:c.10487dup	XP_005266395.1:p.Asn3496LysfsTer5
XM_011535039.2:c.10478dup	XP_011533341.1:p.Asn3493LysfsTer5
XM_017020539.1:c.10451dup	XP_016876028.1:p.Asn3484LysfsTer5
XM_024449337.1:c.10487dup	XP_024305105.1:p.Asn3496LysfsTer5
NM_014363.6:c.10460dup MANE Select	NP_055178.3:p.Asn3487LysfsTer5
NM_001278055.2:c.10019dup	NP_001264984.1:p.Asn3340LysfsTer5