Canonical Allele Identifier: CA2078656557

Gene: SACS

Linked Data

• dbSNP Id: rs1871658046
• gnomAD v4: 13-23375086-G-GAGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375095_23375099dup , CM000675.2:g.23375095_23375099dup	GRCh38
NC_000013.10:g.23949234_23949238dup , CM000675.1:g.23949234_23949238dup	GRCh37
NC_000013.9:g.22847234_22847238dup	NCBI36
NG_012342.1:g.63612_63616dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.744+28_744+32dup
ENST00000682547.1:c.208+28_208+32dup	ENSP00000507735.1:n.208+28_208+32dup
ENST00000682775.1:c.171+28_171+32dup	ENSP00000508399.1:n.171+28_171+32dup
ENST00000682944.1:c.171+28_171+32dup	ENSP00000507173.1:n.171+28_171+32dup
ENST00000683154.1:n.309+28_309+32dup
ENST00000683210.1:c.171+28_171+32dup	ENSP00000506739.1:n.171+28_171+32dup
ENST00000683270.1:c.162+28_162+32dup	ENSP00000507624.1:n.162+28_162+32dup
ENST00000683367.1:c.162+28_162+32dup	ENSP00000507780.1:n.162+28_162+32dup
ENST00000683489.1:c.171+28_171+32dup	ENSP00000508403.1:n.171+28_171+32dup
ENST00000683680.1:c.171+28_171+32dup	ENSP00000507223.1:n.171+28_171+32dup
ENST00000684053.1:n.288+28_288+32dup
ENST00000684163.1:c.162+28_162+32dup	ENSP00000508262.1:n.162+28_162+32dup
ENST00000684325.1:c.171+28_171+32dup	ENSP00000508121.1:n.171+28_171+32dup
ENST00000684385.1:c.171+28_171+32dup	ENSP00000507855.1:n.171+28_171+32dup
ENST00000684497.1:c.171+28_171+32dup	ENSP00000507057.1:n.171+28_171+32dup
ENST00000382292.9:c.171+28_171+32dup MANE Select	ENSP00000371729.3:n.171+28_171+32dup
ENST00000423156.2:c.171+28_171+32dup	ENSP00000390925.2:n.171+28_171+32dup
ENST00000455470.6:c.171+28_171+32dup	ENSP00000406565.2:n.171+28_171+32dup
ENST00000382292.7:c.171+28_171+32dup	ENSP00000371729.3:n.171+28_171+32dup
ENST00000382298.7:c.171+28_171+32dup	ENSP00000371735.3:n.171+28_171+32dup
ENST00000402364.1:c.-1992+28_-1992+32dup	ENSP00000385844.1:n.-1992+28_-1992+32dup
NM_001278055.1:c.-183+28_-183+32dup	NP_001264984.1:n.-183+28_-183+32dup
NM_014363.5:c.171+28_171+32dup	NP_055178.3:n.171+28_171+32dup
XM_005266338.1:c.171+28_171+32dup	XP_005266395.1:n.171+28_171+32dup
XM_011535038.1:c.195+28_195+32dup	XP_011533340.1:n.195+28_195+32dup
XM_011535039.1:c.162+28_162+32dup	XP_011533341.1:n.162+28_162+32dup
XM_005266338.2:c.171+28_171+32dup	XP_005266395.1:n.171+28_171+32dup
XM_011535039.2:c.162+28_162+32dup	XP_011533341.1:n.162+28_162+32dup
XM_017020539.1:c.162+28_162+32dup	XP_016876028.1:n.162+28_162+32dup
XM_024449337.1:c.171+28_171+32dup	XP_024305105.1:n.171+28_171+32dup
NM_014363.6:c.171+28_171+32dup MANE Select	NP_055178.3:n.171+28_171+32dup
NM_001278055.2:c.-183+28_-183+32dup	NP_001264984.1:n.-183+28_-183+32dup