Canonical Allele Identifier: CA246653051

Gene: SACS

Linked Data

• ClinVar Variation Id: 550556
• ClinVar RCV Id: RCV000665334
• dbSNP Id: rs768958169
• gnomAD v4: 13-23334096-ATCT-A
• MyVariant Identifiers: chr13:g.23908236_23908238del (hg19) ; chr13:g.23334097_23334099del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334101_23334103del , CM000675.2:g.23334101_23334103del	GRCh38
NC_000013.10:g.23908240_23908242del , CM000675.1:g.23908240_23908242del	GRCh37
NC_000013.9:g.22806240_22806242del	NCBI36
NG_012342.1:g.104604_104606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19686_2185+19688del	ENSP00000508399.1:n.2185+19686_2185+19688del
ENST00000682944.1:c.9804_9806del	ENSP00000507173.1:p.Glu3268del
ENST00000683210.1:c.2185+19686_2185+19688del	ENSP00000506739.1:n.2185+19686_2185+19688del
ENST00000683270.1:c.6445+3323_6445+3325del	ENSP00000507624.1:n.6445+3323_6445+3325del
ENST00000683367.1:c.2177-4615_2177-4613del	ENSP00000507780.1:n.2177-4615_2177-4613del
ENST00000683489.1:c.2292-4147_2292-4145del	ENSP00000508403.1:n.2292-4147_2292-4145del
ENST00000683680.1:c.2319-4147_2319-4145del	ENSP00000507223.1:n.2319-4147_2319-4145del
ENST00000684163.1:c.2204-4615_2204-4613del	ENSP00000508262.1:n.2204-4615_2204-4613del
ENST00000684196.1:n.4543-4615_4543-4613del
ENST00000684325.1:c.2186-12425_2186-12423del	ENSP00000508121.1:n.2186-12425_2186-12423del
ENST00000684385.1:c.2221-4615_2221-4613del	ENSP00000507855.1:n.2221-4615_2221-4613del
ENST00000684497.1:c.2186-11455_2186-11453del	ENSP00000507057.1:n.2186-11455_2186-11453del
ENST00000382292.9:c.9777_9779del MANE Select	ENSP00000371729.3:p.Glu3259del
ENST00000423156.2:c.2186-4615_2186-4613del	ENSP00000390925.2:n.2186-4615_2186-4613del
ENST00000455470.6:c.2432-4615_2432-4613del	ENSP00000406565.2:n.2432-4615_2432-4613del
ENST00000382292.7:c.9777_9779del	ENSP00000371729.3:p.Glu3259del
ENST00000382298.7:c.9777_9779del	ENSP00000371735.3:p.Glu3259del
ENST00000402364.1:c.7527_7529del	ENSP00000385844.1:p.Glu2509del
ENST00000423156.1:c.1058-4615_1058-4613del	ENSP00000390925.1:n.1058-4615_1058-4613del
ENST00000455470.5:c.2130-4615_2130-4613del
NM_001278055.1:c.9336_9338del	NP_001264984.1:p.Glu3112del
NM_014363.5:c.9777_9779del	NP_055178.3:p.Glu3259del
XM_005266338.1:c.9804_9806del	XP_005266395.1:p.Glu3268del
XM_011535038.1:c.9828_9830del	XP_011533340.1:p.Glu3276del
XM_011535039.1:c.9795_9797del	XP_011533341.1:p.Glu3265del
XM_005266338.2:c.9804_9806del	XP_005266395.1:p.Glu3268del
XM_011535039.2:c.9795_9797del	XP_011533341.1:p.Glu3265del
XM_017020539.1:c.9768_9770del	XP_016876028.1:p.Glu3256del
XM_024449337.1:c.9804_9806del	XP_024305105.1:p.Glu3268del
NM_014363.6:c.9777_9779del MANE Select	NP_055178.3:p.Glu3259del
NM_001278055.2:c.9336_9338del	NP_001264984.1:p.Glu3112del