Canonical Allele Identifier: CA6911153

Gene: SACS

Linked Data

• ClinVar Variation Id: 928541
• ClinVar RCV Id: RCV001192590 ; RCV001232497
• dbSNP Id: rs773754134
• ExAC: 13:23912010 CTTCTT / C
• gnomAD v2: 13-23912010-CTTCTT-C
• gnomAD v3: 13-23337871-CTTCTT-C
• gnomAD v4: 13-23337871-CTTCTT-C
• MyVariant Identifiers: chr13:g.23912011_23912015del (hg19) ; chr13:g.23337872_23337876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337874_23337878del , CM000675.2:g.23337874_23337878del	GRCh38
NC_000013.10:g.23912013_23912017del , CM000675.1:g.23912013_23912017del	GRCh37
NC_000013.9:g.22810013_22810017del	NCBI36
NG_012342.1:g.100827_100831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15909_2185+15913del	ENSP00000508399.1:n.2185+15909_2185+15913del
ENST00000682944.1:c.6027_6031del	ENSP00000507173.1:p.Arg2011CysfsTer25
ENST00000683210.1:c.2185+15909_2185+15913del	ENSP00000506739.1:n.2185+15909_2185+15913del
ENST00000683270.1:c.5991_5995del	ENSP00000507624.1:p.Arg1999CysfsTer25
ENST00000683367.1:c.2177-8392_2177-8388del	ENSP00000507780.1:n.2177-8392_2177-8388del
ENST00000683489.1:c.2291+3709_2291+3713del	ENSP00000508403.1:n.2291+3709_2291+3713del
ENST00000683680.1:c.2318+3709_2318+3713del	ENSP00000507223.1:n.2318+3709_2318+3713del
ENST00000684163.1:c.2204-8392_2204-8388del	ENSP00000508262.1:n.2204-8392_2204-8388del
ENST00000684196.1:n.4543-8392_4543-8388del
ENST00000684325.1:c.2185+15909_2185+15913del	ENSP00000508121.1:n.2185+15909_2185+15913del
ENST00000684385.1:c.2221-8392_2221-8388del	ENSP00000507855.1:n.2221-8392_2221-8388del
ENST00000684497.1:c.2186-15232_2186-15228del	ENSP00000507057.1:n.2186-15232_2186-15228del
ENST00000382292.9:c.6000_6004del MANE Select	ENSP00000371729.3:p.Arg2002CysfsTer25
ENST00000423156.2:c.2186-8392_2186-8388del	ENSP00000390925.2:n.2186-8392_2186-8388del
ENST00000455470.6:c.2431+3569_2431+3573del	ENSP00000406565.2:n.2431+3569_2431+3573del
ENST00000382292.7:c.6000_6004del	ENSP00000371729.3:p.Arg2002CysfsTer25
ENST00000382298.7:c.6000_6004del	ENSP00000371735.3:p.Arg2002CysfsTer25
ENST00000402364.1:c.3750_3754del	ENSP00000385844.1:p.Arg1252CysfsTer25
ENST00000423156.1:c.1058-8392_1058-8388del	ENSP00000390925.1:n.1058-8392_1058-8388del
ENST00000455470.5:c.2129+3569_2129+3573del
NM_001278055.1:c.5559_5563del	NP_001264984.1:p.Arg1855CysfsTer25
NM_014363.5:c.6000_6004del	NP_055178.3:p.Arg2002CysfsTer25
XM_005266338.1:c.6027_6031del	XP_005266395.1:p.Arg2011CysfsTer25
XM_011535038.1:c.6051_6055del	XP_011533340.1:p.Arg2019CysfsTer25
XM_011535039.1:c.6018_6022del	XP_011533341.1:p.Arg2008CysfsTer25
XM_005266338.2:c.6027_6031del	XP_005266395.1:p.Arg2011CysfsTer25
XM_011535039.2:c.6018_6022del	XP_011533341.1:p.Arg2008CysfsTer25
XM_017020539.1:c.5991_5995del	XP_016876028.1:p.Arg1999CysfsTer25
XM_024449337.1:c.6027_6031del	XP_024305105.1:p.Arg2011CysfsTer25
NM_014363.6:c.6000_6004del MANE Select	NP_055178.3:p.Arg2002CysfsTer25
NM_001278055.2:c.5559_5563del	NP_001264984.1:p.Arg1855CysfsTer25