Canonical Allele Identifier: CA696651327

Gene: SACS

Linked Data

• dbSNP Id: rs1467988133
• gnomAD v3: 13-23358289-G-GAT
• gnomAD v4: 13-23358289-G-GAT
• MyVariant Identifiers: chr13:g.23932428_23932429insAT (hg19) ; chr13:g.23358289_23358290insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358293_23358294dup , CM000675.2:g.23358293_23358294dup	GRCh38
NC_000013.10:g.23932432_23932433dup , CM000675.1:g.23932432_23932433dup	GRCh37
NC_000013.9:g.22830432_22830433dup	NCBI36
NG_012342.1:g.80412_80413dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.604+44_604+45dup	ENSP00000508399.1:n.604+44_604+45dup
ENST00000682944.1:c.604+44_604+45dup	ENSP00000507173.1:n.604+44_604+45dup
ENST00000683154.1:n.742+44_742+45dup
ENST00000683210.1:c.604+44_604+45dup	ENSP00000506739.1:n.604+44_604+45dup
ENST00000683270.1:c.595+44_595+45dup	ENSP00000507624.1:n.595+44_595+45dup
ENST00000683367.1:c.595+44_595+45dup	ENSP00000507780.1:n.595+44_595+45dup
ENST00000683489.1:c.604+44_604+45dup	ENSP00000508403.1:n.604+44_604+45dup
ENST00000683680.1:c.604+44_604+45dup	ENSP00000507223.1:n.604+44_604+45dup
ENST00000684163.1:c.595+44_595+45dup	ENSP00000508262.1:n.595+44_595+45dup
ENST00000684196.1:n.2961+44_2961+45dup
ENST00000684325.1:c.604+44_604+45dup	ENSP00000508121.1:n.604+44_604+45dup
ENST00000684385.1:c.604+44_604+45dup	ENSP00000507855.1:n.604+44_604+45dup
ENST00000684497.1:c.604+44_604+45dup	ENSP00000507057.1:n.604+44_604+45dup
ENST00000382292.9:c.604+44_604+45dup MANE Select	ENSP00000371729.3:n.604+44_604+45dup
ENST00000423156.2:c.604+44_604+45dup	ENSP00000390925.2:n.604+44_604+45dup
ENST00000455470.6:c.604+44_604+45dup	ENSP00000406565.2:n.604+44_604+45dup
ENST00000382292.7:c.604+44_604+45dup	ENSP00000371729.3:n.604+44_604+45dup
ENST00000382298.7:c.604+44_604+45dup	ENSP00000371735.3:n.604+44_604+45dup
ENST00000402364.1:c.-1647+44_-1647+45dup	ENSP00000385844.1:n.-1647+44_-1647+45dup
ENST00000455470.5:c.302+44_302+45dup
NM_001278055.1:c.163+44_163+45dup	NP_001264984.1:n.163+44_163+45dup
NM_014363.5:c.604+44_604+45dup	NP_055178.3:n.604+44_604+45dup
XM_005266338.1:c.604+44_604+45dup	XP_005266395.1:n.604+44_604+45dup
XM_011535038.1:c.628+44_628+45dup	XP_011533340.1:n.628+44_628+45dup
XM_011535039.1:c.595+44_595+45dup	XP_011533341.1:n.595+44_595+45dup
XM_005266338.2:c.604+44_604+45dup	XP_005266395.1:n.604+44_604+45dup
XM_011535039.2:c.595+44_595+45dup	XP_011533341.1:n.595+44_595+45dup
XM_017020539.1:c.595+44_595+45dup	XP_016876028.1:n.595+44_595+45dup
XM_024449337.1:c.604+44_604+45dup	XP_024305105.1:n.604+44_604+45dup
NM_014363.6:c.604+44_604+45dup MANE Select	NP_055178.3:n.604+44_604+45dup
NM_001278055.2:c.163+44_163+45dup	NP_001264984.1:n.163+44_163+45dup