Canonical Allele Identifier: CA696606712

Gene: SACS

Linked Data

• dbSNP Id: rs1215398697
• gnomAD v3: 13-23333987-C-CAA
• gnomAD v4: 13-23333987-C-CAA
• MyVariant Identifiers: chr13:g.23908126_23908127insAA (hg19) ; chr13:g.23333987_23333988insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333988_23333989insAA , CM000675.2:g.23333988_23333989insAA	GRCh38
NC_000013.10:g.23908127_23908128insAA , CM000675.1:g.23908127_23908128insAA	GRCh37
NC_000013.9:g.22806127_22806128insAA	NCBI36
NG_012342.1:g.104715_104716insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19797_2185+19798insTT	ENSP00000508399.1:n.2185+19797_2185+19798...
ENST00000682944.1:c.9915_9916insTT	ENSP00000507173.1:p.Glu3306LeufsTer29
ENST00000683210.1:c.2185+19797_2185+19798insTT	ENSP00000506739.1:n.2185+19797_2185+19798...
ENST00000683270.1:c.6445+3434_6445+3435insTT	ENSP00000507624.1:n.6445+3434_6445+3435in...
ENST00000683367.1:c.2177-4504_2177-4503insTT	ENSP00000507780.1:n.2177-4504_2177-4503in...
ENST00000683489.1:c.2292-4036_2292-4035insTT	ENSP00000508403.1:n.2292-4036_2292-4035in...
ENST00000683680.1:c.2319-4036_2319-4035insTT	ENSP00000507223.1:n.2319-4036_2319-4035in...
ENST00000684163.1:c.2204-4504_2204-4503insTT	ENSP00000508262.1:n.2204-4504_2204-4503in...
ENST00000684196.1:n.4543-4504_4543-4503insTT
ENST00000684325.1:c.2186-12314_2186-12313insTT	ENSP00000508121.1:n.2186-12314_2186-12313...
ENST00000684385.1:c.2221-4504_2221-4503insTT	ENSP00000507855.1:n.2221-4504_2221-4503in...
ENST00000684497.1:c.2186-11344_2186-11343insTT	ENSP00000507057.1:n.2186-11344_2186-11343...
ENST00000382292.9:c.9888_9889insTT MANE Select	ENSP00000371729.3:p.Glu3297LeufsTer29
ENST00000423156.2:c.2186-4504_2186-4503insTT	ENSP00000390925.2:n.2186-4504_2186-4503in...
ENST00000455470.6:c.2432-4504_2432-4503insTT	ENSP00000406565.2:n.2432-4504_2432-4503in...
ENST00000382292.7:c.9888_9889insTT	ENSP00000371729.3:p.Glu3297LeufsTer29
ENST00000382298.7:c.9888_9889insTT	ENSP00000371735.3:p.Glu3297LeufsTer29
ENST00000402364.1:c.7638_7639insTT	ENSP00000385844.1:p.Glu2547LeufsTer29
ENST00000423156.1:c.1058-4504_1058-4503insTT	ENSP00000390925.1:n.1058-4504_1058-4503in...
ENST00000455470.5:c.2130-4504_2130-4503insTT
NM_001278055.1:c.9447_9448insTT	NP_001264984.1:p.Glu3150LeufsTer29
NM_014363.5:c.9888_9889insTT	NP_055178.3:p.Glu3297LeufsTer29
XM_005266338.1:c.9915_9916insTT	XP_005266395.1:p.Glu3306LeufsTer29
XM_011535038.1:c.9939_9940insTT	XP_011533340.1:p.Glu3314LeufsTer29
XM_011535039.1:c.9906_9907insTT	XP_011533341.1:p.Glu3303LeufsTer29
XM_005266338.2:c.9915_9916insTT	XP_005266395.1:p.Glu3306LeufsTer29
XM_011535039.2:c.9906_9907insTT	XP_011533341.1:p.Glu3303LeufsTer29
XM_017020539.1:c.9879_9880insTT	XP_016876028.1:p.Glu3294LeufsTer29
XM_024449337.1:c.9915_9916insTT	XP_024305105.1:p.Glu3306LeufsTer29
NM_014363.6:c.9888_9889insTT MANE Select	NP_055178.3:p.Glu3297LeufsTer29
NM_001278055.2:c.9447_9448insTT	NP_001264984.1:p.Glu3150LeufsTer29