Canonical Allele Identifier: CA658823510

Gene: SACS

Linked Data

• ClinVar Variation Id: 550267
• ClinVar RCV Id: RCV000664967
• dbSNP Id: rs1555251514
• MyVariant Identifiers: chr13:g.23336652_23336655dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336654_23336657dup , CM000675.2:g.23336654_23336657dup	GRCh38
NC_000013.10:g.23910793_23910796dup , CM000675.1:g.23910793_23910796dup	GRCh37
NC_000013.9:g.22808793_22808796dup	NCBI36
NG_012342.1:g.102048_102051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17130_2185+17133dup	ENSP00000508399.1:n.2185+17130_2185+17133dup
ENST00000682944.1:c.7248_7251dup	ENSP00000507173.1:p.Gln2418Ter
ENST00000683210.1:c.2185+17130_2185+17133dup	ENSP00000506739.1:n.2185+17130_2185+17133dup
ENST00000683270.1:c.6445+767_6445+770dup	ENSP00000507624.1:n.6445+767_6445+770dup
ENST00000683367.1:c.2177-7171_2177-7168dup	ENSP00000507780.1:n.2177-7171_2177-7168dup
ENST00000683489.1:c.2291+4930_2291+4933dup	ENSP00000508403.1:n.2291+4930_2291+4933dup
ENST00000683680.1:c.2318+4930_2318+4933dup	ENSP00000507223.1:n.2318+4930_2318+4933dup
ENST00000684163.1:c.2204-7171_2204-7168dup	ENSP00000508262.1:n.2204-7171_2204-7168dup
ENST00000684196.1:n.4543-7171_4543-7168dup
ENST00000684325.1:c.2186-14981_2186-14978dup	ENSP00000508121.1:n.2186-14981_2186-14978dup
ENST00000684385.1:c.2221-7171_2221-7168dup	ENSP00000507855.1:n.2221-7171_2221-7168dup
ENST00000684497.1:c.2186-14011_2186-14008dup	ENSP00000507057.1:n.2186-14011_2186-14008dup
ENST00000382292.9:c.7221_7224dup MANE Select	ENSP00000371729.3:p.Gln2409Ter
ENST00000423156.2:c.2186-7171_2186-7168dup	ENSP00000390925.2:n.2186-7171_2186-7168dup
ENST00000455470.6:c.2431+4790_2431+4793dup	ENSP00000406565.2:n.2431+4790_2431+4793dup
ENST00000382292.7:c.7221_7224dup	ENSP00000371729.3:p.Gln2409Ter
ENST00000382298.7:c.7221_7224dup	ENSP00000371735.3:p.Gln2409Ter
ENST00000402364.1:c.4971_4974dup	ENSP00000385844.1:p.Gln1659Ter
ENST00000423156.1:c.1058-7171_1058-7168dup	ENSP00000390925.1:n.1058-7171_1058-7168dup
ENST00000455470.5:c.2129+4790_2129+4793dup
NM_001278055.1:c.6780_6783dup	NP_001264984.1:p.Gln2262Ter
NM_014363.5:c.7221_7224dup	NP_055178.3:p.Gln2409Ter
XM_005266338.1:c.7248_7251dup	XP_005266395.1:p.Gln2418Ter
XM_011535038.1:c.7272_7275dup	XP_011533340.1:p.Gln2426Ter
XM_011535039.1:c.7239_7242dup	XP_011533341.1:p.Gln2415Ter
XM_005266338.2:c.7248_7251dup	XP_005266395.1:p.Gln2418Ter
XM_011535039.2:c.7239_7242dup	XP_011533341.1:p.Gln2415Ter
XM_017020539.1:c.7212_7215dup	XP_016876028.1:p.Gln2406Ter
XM_024449337.1:c.7248_7251dup	XP_024305105.1:p.Gln2418Ter
NM_014363.6:c.7221_7224dup MANE Select	NP_055178.3:p.Gln2409Ter
NM_001278055.2:c.6780_6783dup	NP_001264984.1:p.Gln2262Ter