Canonical Allele Identifier: CA273875

Gene: SACS

Linked Data

• ClinVar Variation Id: 188710
• ClinVar RCV Id: RCV000168999 ; RCV003588582
• dbSNP Id: rs786204416
• gnomAD v3: 13-23333408-AAG-A
• gnomAD v4: 13-23333408-AAG-A
• MyVariant Identifiers: chr13:g.23907548_23907549del (hg19) ; chr13:g.23333409_23333410del (hg38)
• PubMed: PMID:21597885

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333414_23333415del , CM000675.2:g.23333414_23333415del	GRCh38
NC_000013.10:g.23907553_23907554del , CM000675.1:g.23907553_23907554del	GRCh37
NC_000013.9:g.22805553_22805554del	NCBI36
NG_012342.1:g.105293_105294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20375_2185+20376del	ENSP00000508399.1:n.2185+20375_2185+20376del
ENST00000682944.1:c.10493_10494del	ENSP00000507173.1:p.Ser3498LeufsTer2
ENST00000683210.1:c.2185+20375_2185+20376del	ENSP00000506739.1:n.2185+20375_2185+20376del
ENST00000683270.1:c.6446-3926_6446-3925del	ENSP00000507624.1:n.6446-3926_6446-3925del
ENST00000683367.1:c.2177-3926_2177-3925del	ENSP00000507780.1:n.2177-3926_2177-3925del
ENST00000683489.1:c.2292-3458_2292-3457del	ENSP00000508403.1:n.2292-3458_2292-3457del
ENST00000683680.1:c.2319-3458_2319-3457del	ENSP00000507223.1:n.2319-3458_2319-3457del
ENST00000684163.1:c.2204-3926_2204-3925del	ENSP00000508262.1:n.2204-3926_2204-3925del
ENST00000684196.1:n.4543-3926_4543-3925del
ENST00000684325.1:c.2186-11736_2186-11735del	ENSP00000508121.1:n.2186-11736_2186-11735del
ENST00000684385.1:c.2221-3926_2221-3925del	ENSP00000507855.1:n.2221-3926_2221-3925del
ENST00000684497.1:c.2186-10766_2186-10765del	ENSP00000507057.1:n.2186-10766_2186-10765del
ENST00000382292.9:c.10466_10467del MANE Select	ENSP00000371729.3:p.Ser3489LeufsTer2
ENST00000423156.2:c.2186-3926_2186-3925del	ENSP00000390925.2:n.2186-3926_2186-3925del
ENST00000455470.6:c.2432-3926_2432-3925del	ENSP00000406565.2:n.2432-3926_2432-3925del
ENST00000382292.7:c.10466_10467del	ENSP00000371729.3:p.Ser3489LeufsTer2
ENST00000382298.7:c.10466_10467del	ENSP00000371735.3:p.Ser3489LeufsTer2
ENST00000402364.1:c.8216_8217del	ENSP00000385844.1:p.Ser2739LeufsTer2
ENST00000423156.1:c.1058-3926_1058-3925del	ENSP00000390925.1:n.1058-3926_1058-3925del
ENST00000455470.5:c.2130-3926_2130-3925del
NM_001278055.1:c.10025_10026del	NP_001264984.1:p.Ser3342LeufsTer2
NM_014363.5:c.10466_10467del	NP_055178.3:p.Ser3489LeufsTer2
XM_005266338.1:c.10493_10494del	XP_005266395.1:p.Ser3498LeufsTer2
XM_011535038.1:c.10517_10518del	XP_011533340.1:p.Ser3506LeufsTer2
XM_011535039.1:c.10484_10485del	XP_011533341.1:p.Ser3495LeufsTer2
XM_005266338.2:c.10493_10494del	XP_005266395.1:p.Ser3498LeufsTer2
XM_011535039.2:c.10484_10485del	XP_011533341.1:p.Ser3495LeufsTer2
XM_017020539.1:c.10457_10458del	XP_016876028.1:p.Ser3486LeufsTer2
XM_024449337.1:c.10493_10494del	XP_024305105.1:p.Ser3498LeufsTer2
NM_014363.6:c.10466_10467del MANE Select	NP_055178.3:p.Ser3489LeufsTer2
NM_001278055.2:c.10025_10026del	NP_001264984.1:p.Ser3342LeufsTer2