Canonical Allele Identifier: CA658823447

Gene: SACS

Linked Data

• ClinVar Variation Id: 550102
• ClinVar RCV Id: RCV000664740
• dbSNP Id: rs1555250022
• MyVariant Identifiers: chr13:g.23332874_23332883dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332874_23332883dup , CM000675.2:g.23332874_23332883dup	GRCh38
NC_000013.10:g.23907013_23907022dup , CM000675.1:g.23907013_23907022dup	GRCh37
NC_000013.9:g.22805013_22805022dup	NCBI36
NG_012342.1:g.105820_105829dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-20768_2186-20759dup	ENSP00000508399.1:n.2186-20768_2186-20759dup
ENST00000682944.1:c.11020_11029dup	ENSP00000507173.1:p.Pro3677GlnfsTer31
ENST00000683210.1:c.2185+20902_2185+20911dup	ENSP00000506739.1:n.2185+20902_2185+20911dup
ENST00000683270.1:c.6446-3399_6446-3390dup	ENSP00000507624.1:n.6446-3399_6446-3390dup
ENST00000683367.1:c.2177-3399_2177-3390dup	ENSP00000507780.1:n.2177-3399_2177-3390dup
ENST00000683489.1:c.2292-2931_2292-2922dup	ENSP00000508403.1:n.2292-2931_2292-2922dup
ENST00000683680.1:c.2319-2931_2319-2922dup	ENSP00000507223.1:n.2319-2931_2319-2922dup
ENST00000684163.1:c.2204-3399_2204-3390dup	ENSP00000508262.1:n.2204-3399_2204-3390dup
ENST00000684196.1:n.4543-3399_4543-3390dup
ENST00000684325.1:c.2186-11209_2186-11200dup	ENSP00000508121.1:n.2186-11209_2186-11200dup
ENST00000684385.1:c.2221-3399_2221-3390dup	ENSP00000507855.1:n.2221-3399_2221-3390dup
ENST00000684497.1:c.2186-10239_2186-10230dup	ENSP00000507057.1:n.2186-10239_2186-10230dup
ENST00000382292.9:c.10993_11002dup MANE Select	ENSP00000371729.3:p.Pro3668GlnfsTer31
ENST00000423156.2:c.2186-3399_2186-3390dup	ENSP00000390925.2:n.2186-3399_2186-3390dup
ENST00000455470.6:c.2432-3399_2432-3390dup	ENSP00000406565.2:n.2432-3399_2432-3390dup
ENST00000382292.7:c.10993_11002dup	ENSP00000371729.3:p.Pro3668GlnfsTer31
ENST00000382298.7:c.10993_11002dup	ENSP00000371735.3:p.Pro3668GlnfsTer31
ENST00000402364.1:c.8743_8752dup	ENSP00000385844.1:p.Pro2918GlnfsTer31
ENST00000423156.1:c.1058-3399_1058-3390dup	ENSP00000390925.1:n.1058-3399_1058-3390dup
ENST00000455470.5:c.2130-3399_2130-3390dup
NM_001278055.1:c.10552_10561dup	NP_001264984.1:p.Pro3521GlnfsTer31
NM_014363.5:c.10993_11002dup	NP_055178.3:p.Pro3668GlnfsTer31
XM_005266338.1:c.11020_11029dup	XP_005266395.1:p.Pro3677GlnfsTer31
XM_011535038.1:c.11044_11053dup	XP_011533340.1:p.Pro3685GlnfsTer31
XM_011535039.1:c.11011_11020dup	XP_011533341.1:p.Pro3674GlnfsTer31
XM_005266338.2:c.11020_11029dup	XP_005266395.1:p.Pro3677GlnfsTer31
XM_011535039.2:c.11011_11020dup	XP_011533341.1:p.Pro3674GlnfsTer31
XM_017020539.1:c.10984_10993dup	XP_016876028.1:p.Pro3665GlnfsTer31
XM_024449337.1:c.11020_11029dup	XP_024305105.1:p.Pro3677GlnfsTer31
NM_014363.6:c.10993_11002dup MANE Select	NP_055178.3:p.Pro3668GlnfsTer31
NM_001278055.2:c.10552_10561dup	NP_001264984.1:p.Pro3521GlnfsTer31