Canonical Allele Identifier: CA2622328851

Gene: SACS

Linked Data

• gnomAD v4: 13-23330278-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330279dup , CM000675.2:g.23330279dup	GRCh38
NC_000013.10:g.23904418dup , CM000675.1:g.23904418dup	GRCh37
NC_000013.9:g.22802418dup	NCBI36
NG_012342.1:g.108424dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18164dup	ENSP00000508399.1:n.2186-18164dup
ENST00000682944.1:c.13624dup	ENSP00000507173.1:p.Ser4542LysfsTer8
ENST00000683210.1:c.2185+23506dup	ENSP00000506739.1:n.2185+23506dup
ENST00000683270.1:c.6446-795dup	ENSP00000507624.1:n.6446-795dup
ENST00000683367.1:c.2177-795dup	ENSP00000507780.1:n.2177-795dup
ENST00000683489.1:c.2292-327dup	ENSP00000508403.1:n.2292-327dup
ENST00000683680.1:c.2319-327dup	ENSP00000507223.1:n.2319-327dup
ENST00000684163.1:c.2204-795dup	ENSP00000508262.1:n.2204-795dup
ENST00000684196.1:n.4543-795dup
ENST00000684325.1:c.2186-8605dup	ENSP00000508121.1:n.2186-8605dup
ENST00000684385.1:c.2221-795dup	ENSP00000507855.1:n.2221-795dup
ENST00000684497.1:c.2186-7635dup	ENSP00000507057.1:n.2186-7635dup
ENST00000382292.9:c.13597dup MANE Select	ENSP00000371729.3:p.Ser4533LysfsTer8
ENST00000423156.2:c.2186-795dup	ENSP00000390925.2:n.2186-795dup
ENST00000455470.6:c.2432-795dup	ENSP00000406565.2:n.2432-795dup
ENST00000382292.7:c.13597dup	ENSP00000371729.3:p.Ser4533LysfsTer8
ENST00000382298.7:c.13597dup	ENSP00000371735.3:p.Ser4533LysfsTer8
ENST00000402364.1:c.11347dup	ENSP00000385844.1:p.Ser3783LysfsTer8
ENST00000423156.1:c.1058-795dup	ENSP00000390925.1:n.1058-795dup
ENST00000455470.5:c.2130-795dup
NM_001278055.1:c.13156dup	NP_001264984.1:p.Ser4386LysfsTer8
NM_014363.5:c.13597dup	NP_055178.3:p.Ser4533LysfsTer8
XM_005266338.1:c.13624dup	XP_005266395.1:p.Ser4542LysfsTer8
XM_011535038.1:c.13648dup	XP_011533340.1:p.Ser4550LysfsTer8
XM_011535039.1:c.13615dup	XP_011533341.1:p.Ser4539LysfsTer8
XM_005266338.2:c.13624dup	XP_005266395.1:p.Ser4542LysfsTer8
XM_011535039.2:c.13615dup	XP_011533341.1:p.Ser4539LysfsTer8
XM_017020539.1:c.13588dup	XP_016876028.1:p.Ser4530LysfsTer8
XM_024449337.1:c.13624dup	XP_024305105.1:p.Ser4542LysfsTer8
NM_014363.6:c.13597dup MANE Select	NP_055178.3:p.Ser4533LysfsTer8
NM_001278055.2:c.13156dup	NP_001264984.1:p.Ser4386LysfsTer8