Canonical Allele Identifier: CA2078628293

Gene: SACS

Linked Data

• dbSNP Id: rs1868806707

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337934_23337939del , CM000675.2:g.23337934_23337939del	GRCh38
NC_000013.10:g.23912073_23912078del , CM000675.1:g.23912073_23912078del	GRCh37
NC_000013.9:g.22810073_22810078del	NCBI36
NG_012342.1:g.100764_100769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15846_2185+15851del	ENSP00000508399.1:n.2185+15846_2185+15851del
ENST00000682944.1:c.5964_5969del	ENSP00000507173.1:p.Ser1989_Asp1990del
ENST00000683210.1:c.2185+15846_2185+15851del	ENSP00000506739.1:n.2185+15846_2185+15851del
ENST00000683270.1:c.5928_5933del	ENSP00000507624.1:p.Ser1977_Asp1978del
ENST00000683367.1:c.2177-8455_2177-8450del	ENSP00000507780.1:n.2177-8455_2177-8450del
ENST00000683489.1:c.2291+3646_2291+3651del	ENSP00000508403.1:n.2291+3646_2291+3651del
ENST00000683680.1:c.2318+3646_2318+3651del	ENSP00000507223.1:n.2318+3646_2318+3651del
ENST00000684163.1:c.2204-8455_2204-8450del	ENSP00000508262.1:n.2204-8455_2204-8450del
ENST00000684196.1:n.4543-8455_4543-8450del
ENST00000684325.1:c.2185+15846_2185+15851del	ENSP00000508121.1:n.2185+15846_2185+15851del
ENST00000684385.1:c.2221-8455_2221-8450del	ENSP00000507855.1:n.2221-8455_2221-8450del
ENST00000684497.1:c.2186-15295_2186-15290del	ENSP00000507057.1:n.2186-15295_2186-15290del
ENST00000382292.9:c.5937_5942del MANE Select	ENSP00000371729.3:p.Ser1980_Asp1981del
ENST00000423156.2:c.2186-8455_2186-8450del	ENSP00000390925.2:n.2186-8455_2186-8450del
ENST00000455470.6:c.2431+3506_2431+3511del	ENSP00000406565.2:n.2431+3506_2431+3511del
ENST00000382292.7:c.5937_5942del	ENSP00000371729.3:p.Ser1980_Asp1981del
ENST00000382298.7:c.5937_5942del	ENSP00000371735.3:p.Ser1980_Asp1981del
ENST00000402364.1:c.3687_3692del	ENSP00000385844.1:p.Ser1230_Asp1231del
ENST00000423156.1:c.1058-8455_1058-8450del	ENSP00000390925.1:n.1058-8455_1058-8450del
ENST00000455470.5:c.2129+3506_2129+3511del
NM_001278055.1:c.5496_5501del	NP_001264984.1:p.Ser1833_Asp1834del
NM_014363.5:c.5937_5942del	NP_055178.3:p.Ser1980_Asp1981del
XM_005266338.1:c.5964_5969del	XP_005266395.1:p.Ser1989_Asp1990del
XM_011535038.1:c.5988_5993del	XP_011533340.1:p.Ser1997_Asp1998del
XM_011535039.1:c.5955_5960del	XP_011533341.1:p.Ser1986_Asp1987del
XM_005266338.2:c.5964_5969del	XP_005266395.1:p.Ser1989_Asp1990del
XM_011535039.2:c.5955_5960del	XP_011533341.1:p.Ser1986_Asp1987del
XM_017020539.1:c.5928_5933del	XP_016876028.1:p.Ser1977_Asp1978del
XM_024449337.1:c.5964_5969del	XP_024305105.1:p.Ser1989_Asp1990del
NM_014363.6:c.5937_5942del MANE Select	NP_055178.3:p.Ser1980_Asp1981del
NM_001278055.2:c.5496_5501del	NP_001264984.1:p.Ser1833_Asp1834del