Canonical Allele Identifier: CA912980217

Gene: SACS

Linked Data

• gnomAD v4: 13-23338632-C-CT
• MyVariant Identifiers: chr13:g.23912776dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338637dup , CM000675.2:g.23338637dup	GRCh38
NC_000013.10:g.23912776dup , CM000675.1:g.23912776dup	GRCh37
NC_000013.9:g.22810776dup	NCBI36
NG_012342.1:g.100070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15152dup	ENSP00000508399.1:n.2185+15152dup
ENST00000682944.1:c.5270dup	ENSP00000507173.1:p.Leu1758AlafsTer4
ENST00000683210.1:c.2185+15152dup	ENSP00000506739.1:n.2185+15152dup
ENST00000683270.1:c.5234dup	ENSP00000507624.1:p.Leu1746AlafsTer4
ENST00000683367.1:c.2177-9149dup	ENSP00000507780.1:n.2177-9149dup
ENST00000683489.1:c.2291+2952dup	ENSP00000508403.1:n.2291+2952dup
ENST00000683680.1:c.2318+2952dup	ENSP00000507223.1:n.2318+2952dup
ENST00000684163.1:c.2203+8178dup	ENSP00000508262.1:n.2203+8178dup
ENST00000684196.1:n.4543-9149dup
ENST00000684325.1:c.2185+15152dup	ENSP00000508121.1:n.2185+15152dup
ENST00000684385.1:c.2220+8178dup	ENSP00000507855.1:n.2220+8178dup
ENST00000684497.1:c.2185+15152dup	ENSP00000507057.1:n.2185+15152dup
ENST00000382292.9:c.5243dup MANE Select	ENSP00000371729.3:p.Leu1749AlafsTer4
ENST00000423156.2:c.2186-9149dup	ENSP00000390925.2:n.2186-9149dup
ENST00000455470.6:c.2431+2812dup	ENSP00000406565.2:n.2431+2812dup
ENST00000382292.7:c.5243dup	ENSP00000371729.3:p.Leu1749AlafsTer4
ENST00000382298.7:c.5243dup	ENSP00000371735.3:p.Leu1749AlafsTer4
ENST00000402364.1:c.2993dup	ENSP00000385844.1:p.Leu999AlafsTer4
ENST00000423156.1:c.1058-9149dup	ENSP00000390925.1:n.1058-9149dup
ENST00000455470.5:c.2129+2812dup
NM_001278055.1:c.4802dup	NP_001264984.1:p.Leu1602AlafsTer4
NM_014363.5:c.5243dup	NP_055178.3:p.Leu1749AlafsTer4
XM_005266338.1:c.5270dup	XP_005266395.1:p.Leu1758AlafsTer4
XM_011535038.1:c.5294dup	XP_011533340.1:p.Leu1766AlafsTer4
XM_011535039.1:c.5261dup	XP_011533341.1:p.Leu1755AlafsTer4
XM_005266338.2:c.5270dup	XP_005266395.1:p.Leu1758AlafsTer4
XM_011535039.2:c.5261dup	XP_011533341.1:p.Leu1755AlafsTer4
XM_017020539.1:c.5234dup	XP_016876028.1:p.Leu1746AlafsTer4
XM_024449337.1:c.5270dup	XP_024305105.1:p.Leu1758AlafsTer4
NM_014363.6:c.5243dup MANE Select	NP_055178.3:p.Leu1749AlafsTer4
NM_001278055.2:c.4802dup	NP_001264984.1:p.Leu1602AlafsTer4