Canonical Allele Identifier: CA954042372

Gene: SACS

Linked Data

• dbSNP Id: rs1870282319
• gnomAD v3: 13-23355269-AG-A
• gnomAD v4: 13-23355269-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355271del , CM000675.2:g.23355271del	GRCh38
NC_000013.10:g.23929410del , CM000675.1:g.23929410del	GRCh37
NC_000013.9:g.22827410del	NCBI36
NG_012342.1:g.83433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1342del	ENSP00000508399.1:p.Leu448PhefsTer30
ENST00000682944.1:c.1342del	ENSP00000507173.1:p.Leu448PhefsTer30
ENST00000683154.1:n.1480del
ENST00000683210.1:c.1342del	ENSP00000506739.1:p.Leu448PhefsTer30
ENST00000683270.1:c.1333del	ENSP00000507624.1:p.Leu445PhefsTer30
ENST00000683367.1:c.1333del	ENSP00000507780.1:p.Leu445PhefsTer30
ENST00000683489.1:c.1342del	ENSP00000508403.1:p.Leu448PhefsTer30
ENST00000683680.1:c.1342del	ENSP00000507223.1:p.Leu448PhefsTer30
ENST00000684163.1:c.1333del	ENSP00000508262.1:p.Leu445PhefsTer30
ENST00000684196.1:n.3699del
ENST00000684325.1:c.1342del	ENSP00000508121.1:p.Leu448PhefsTer30
ENST00000684385.1:c.1342del	ENSP00000507855.1:p.Leu448PhefsTer30
ENST00000684497.1:c.1342del	ENSP00000507057.1:p.Leu448PhefsTer30
ENST00000382292.9:c.1342del MANE Select	ENSP00000371729.3:p.Leu448PhefsTer30
ENST00000423156.2:c.1342del	ENSP00000390925.2:p.Leu448PhefsTer30
ENST00000455470.6:c.1342del	ENSP00000406565.2:p.Leu448PhefsTer30
ENST00000382292.7:c.1342del	ENSP00000371729.3:p.Leu448PhefsTer30
ENST00000382298.7:c.1342del	ENSP00000371735.3:p.Leu448PhefsTer30
ENST00000402364.1:c.-909del	ENSP00000385844.1:n.-909del
ENST00000423156.1:c.214del	ENSP00000390925.1:p.Leu72PhefsTer30
ENST00000455470.5:c.1040del
NM_001278055.1:c.901del	NP_001264984.1:p.Leu301PhefsTer30
NM_014363.5:c.1342del	NP_055178.3:p.Leu448PhefsTer30
XM_005266338.1:c.1342del	XP_005266395.1:p.Leu448PhefsTer30
XM_011535038.1:c.1366del	XP_011533340.1:p.Leu456PhefsTer30
XM_011535039.1:c.1333del	XP_011533341.1:p.Leu445PhefsTer30
XM_005266338.2:c.1342del	XP_005266395.1:p.Leu448PhefsTer30
XM_011535039.2:c.1333del	XP_011533341.1:p.Leu445PhefsTer30
XM_017020539.1:c.1333del	XP_016876028.1:p.Leu445PhefsTer30
XM_024449337.1:c.1342del	XP_024305105.1:p.Leu448PhefsTer30
NM_014363.6:c.1342del MANE Select	NP_055178.3:p.Leu448PhefsTer30
NM_001278055.2:c.901del	NP_001264984.1:p.Leu301PhefsTer30