Canonical Allele Identifier: CA658823484

Gene: SACS

Linked Data

• ClinVar Variation Id: 558329
• ClinVar RCV Id: RCV000674580
• dbSNP Id: rs1555252742
• MyVariant Identifiers: chr13:g.23340853_23340855del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340855_23340857del , CM000675.2:g.23340855_23340857del	GRCh38
NC_000013.10:g.23914994_23914996del , CM000675.1:g.23914994_23914996del	GRCh37
NC_000013.9:g.22812994_22812996del	NCBI36
NG_012342.1:g.97848_97850del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12930_2185+12932del	ENSP00000508399.1:n.2185+12930_2185+12932...
ENST00000682944.1:c.3048_3050del	ENSP00000507173.1:p.Glu1017del
ENST00000683210.1:c.2185+12930_2185+12932del	ENSP00000506739.1:n.2185+12930_2185+12932...
ENST00000683270.1:c.3012_3014del	ENSP00000507624.1:p.Glu1005del
ENST00000683367.1:c.2177-11371_2177-11369del	ENSP00000507780.1:n.2177-11371_2177-11369...
ENST00000683489.1:c.2291+730_2291+732del	ENSP00000508403.1:n.2291+730_2291+732del
ENST00000683680.1:c.2318+730_2318+732del	ENSP00000507223.1:n.2318+730_2318+732del
ENST00000684163.1:c.2203+5956_2203+5958del	ENSP00000508262.1:n.2203+5956_2203+5958de...
ENST00000684196.1:n.4543-11371_4543-11369del
ENST00000684325.1:c.2185+12930_2185+12932del	ENSP00000508121.1:n.2185+12930_2185+12932...
ENST00000684385.1:c.2220+5956_2220+5958del	ENSP00000507855.1:n.2220+5956_2220+5958de...
ENST00000684497.1:c.2185+12930_2185+12932del	ENSP00000507057.1:n.2185+12930_2185+12932...
ENST00000382292.9:c.3021_3023del MANE Select	ENSP00000371729.3:p.Glu1008del
ENST00000423156.2:c.2186-11371_2186-11369del	ENSP00000390925.2:n.2186-11371_2186-11369...
ENST00000455470.6:c.2431+590_2431+592del	ENSP00000406565.2:n.2431+590_2431+592del
ENST00000382292.7:c.3021_3023del	ENSP00000371729.3:p.Glu1008del
ENST00000382298.7:c.3021_3023del	ENSP00000371735.3:p.Glu1008del
ENST00000402364.1:c.771_773del	ENSP00000385844.1:p.Glu258del
ENST00000423156.1:c.1058-11371_1058-11369del	ENSP00000390925.1:n.1058-11371_1058-11369...
ENST00000455470.5:c.2129+590_2129+592del
NM_001278055.1:c.2580_2582del	NP_001264984.1:p.Glu861del
NM_014363.5:c.3021_3023del	NP_055178.3:p.Glu1008del
XM_005266338.1:c.3048_3050del	XP_005266395.1:p.Glu1017del
XM_011535038.1:c.3072_3074del	XP_011533340.1:p.Glu1025del
XM_011535039.1:c.3039_3041del	XP_011533341.1:p.Glu1014del
XM_005266338.2:c.3048_3050del	XP_005266395.1:p.Glu1017del
XM_011535039.2:c.3039_3041del	XP_011533341.1:p.Glu1014del
XM_017020539.1:c.3012_3014del	XP_016876028.1:p.Glu1005del
XM_024449337.1:c.3048_3050del	XP_024305105.1:p.Glu1017del
NM_014363.6:c.3021_3023del MANE Select	NP_055178.3:p.Glu1008del
NM_001278055.2:c.2580_2582del	NP_001264984.1:p.Glu861del