Canonical Allele Identifier: CA6910070

Gene: SACS

Linked Data

• ClinVar Variation Id: 557396
• ClinVar RCV Id: RCV000673532
• dbSNP Id: rs764766520
• ExAC: 13:23905179 AGAG / A
• gnomAD v2: 13-23905179-AGAG-A
• gnomAD v4: 13-23331040-AGAG-A
• MyVariant Identifiers: chr13:g.23905180_23905182del (hg19) ; chr13:g.23331041_23331043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331046_23331048del , CM000675.2:g.23331046_23331048del	GRCh38
NC_000013.10:g.23905185_23905187del , CM000675.1:g.23905185_23905187del	GRCh37
NC_000013.9:g.22803185_22803187del	NCBI36
NG_012342.1:g.107660_107662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18928_2186-18926del	ENSP00000508399.1:n.2186-18928_2186-18926del
ENST00000682944.1:c.12860_12862del	ENSP00000507173.1:p.Pro4287del
ENST00000683210.1:c.2185+22742_2185+22744del	ENSP00000506739.1:n.2185+22742_2185+22744del
ENST00000683270.1:c.6446-1559_6446-1557del	ENSP00000507624.1:n.6446-1559_6446-1557del
ENST00000683367.1:c.2177-1559_2177-1557del	ENSP00000507780.1:n.2177-1559_2177-1557del
ENST00000683489.1:c.2292-1091_2292-1089del	ENSP00000508403.1:n.2292-1091_2292-1089del
ENST00000683680.1:c.2319-1091_2319-1089del	ENSP00000507223.1:n.2319-1091_2319-1089del
ENST00000684163.1:c.2204-1559_2204-1557del	ENSP00000508262.1:n.2204-1559_2204-1557del
ENST00000684196.1:n.4543-1559_4543-1557del
ENST00000684325.1:c.2186-9369_2186-9367del	ENSP00000508121.1:n.2186-9369_2186-9367del
ENST00000684385.1:c.2221-1559_2221-1557del	ENSP00000507855.1:n.2221-1559_2221-1557del
ENST00000684497.1:c.2186-8399_2186-8397del	ENSP00000507057.1:n.2186-8399_2186-8397del
ENST00000382292.9:c.12833_12835del MANE Select	ENSP00000371729.3:p.Pro4278del
ENST00000423156.2:c.2186-1559_2186-1557del	ENSP00000390925.2:n.2186-1559_2186-1557del
ENST00000455470.6:c.2432-1559_2432-1557del	ENSP00000406565.2:n.2432-1559_2432-1557del
ENST00000382292.7:c.12833_12835del	ENSP00000371729.3:p.Pro4278del
ENST00000382298.7:c.12833_12835del	ENSP00000371735.3:p.Pro4278del
ENST00000402364.1:c.10583_10585del	ENSP00000385844.1:p.Pro3528del
ENST00000423156.1:c.1058-1559_1058-1557del	ENSP00000390925.1:n.1058-1559_1058-1557del
ENST00000455470.5:c.2130-1559_2130-1557del
NM_001278055.1:c.12392_12394del	NP_001264984.1:p.Pro4131del
NM_014363.5:c.12833_12835del	NP_055178.3:p.Pro4278del
XM_005266338.1:c.12860_12862del	XP_005266395.1:p.Pro4287del
XM_011535038.1:c.12884_12886del	XP_011533340.1:p.Pro4295del
XM_011535039.1:c.12851_12853del	XP_011533341.1:p.Pro4284del
XM_005266338.2:c.12860_12862del	XP_005266395.1:p.Pro4287del
XM_011535039.2:c.12851_12853del	XP_011533341.1:p.Pro4284del
XM_017020539.1:c.12824_12826del	XP_016876028.1:p.Pro4275del
XM_024449337.1:c.12860_12862del	XP_024305105.1:p.Pro4287del
NM_014363.6:c.12833_12835del MANE Select	NP_055178.3:p.Pro4278del
NM_001278055.2:c.12392_12394del	NP_001264984.1:p.Pro4131del