Canonical Allele Identifier: CA2078627544

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337404_23337407delinsTATC , CM000675.2:g.23337404_23337407delinsTATC	GRCh38
NC_000013.10:g.23911543_23911546delinsTATC , CM000675.1:g.23911543_23911546delinsTATC	GRCh37
NC_000013.9:g.22809543_22809546delinsTATC	NCBI36
NG_012342.1:g.101296_101299delinsGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16378_2185+16381delinsGATA	ENSP00000508399.1:n.2185+16378_2185+16381delinsGATA
ENST00000682944.1:c.6496_6499delinsGATA	ENSP00000507173.1:p.Asp2166=
ENST00000683210.1:c.2185+16378_2185+16381delinsGATA	ENSP00000506739.1:n.2185+16378_2185+16381delinsGATA
ENST00000683270.1:c.6445+15_6445+18delinsGATA	ENSP00000507624.1:n.6445+15_6445+18delinsGATA
ENST00000683367.1:c.2177-7923_2177-7920delinsGATA	ENSP00000507780.1:n.2177-7923_2177-7920delinsGATA
ENST00000683489.1:c.2291+4178_2291+4181delinsGATA	ENSP00000508403.1:n.2291+4178_2291+4181delinsGATA
ENST00000683680.1:c.2318+4178_2318+4181delinsGATA	ENSP00000507223.1:n.2318+4178_2318+4181delinsGATA
ENST00000684163.1:c.2204-7923_2204-7920delinsGATA	ENSP00000508262.1:n.2204-7923_2204-7920delinsGATA
ENST00000684196.1:n.4543-7923_4543-7920delinsGATA
ENST00000684325.1:c.2186-15733_2186-15730delinsGATA	ENSP00000508121.1:n.2186-15733_2186-15730delinsGATA
ENST00000684385.1:c.2221-7923_2221-7920delinsGATA	ENSP00000507855.1:n.2221-7923_2221-7920delinsGATA
ENST00000684497.1:c.2186-14763_2186-14760delinsGATA	ENSP00000507057.1:n.2186-14763_2186-14760delinsGATA
ENST00000382292.9:c.6469_6472delinsGATA MANE Select	ENSP00000371729.3:p.Asp2157=
ENST00000423156.2:c.2186-7923_2186-7920delinsGATA	ENSP00000390925.2:n.2186-7923_2186-7920delinsGATA
ENST00000455470.6:c.2431+4038_2431+4041delinsGATA	ENSP00000406565.2:n.2431+4038_2431+4041delinsGATA
ENST00000382292.7:c.6469_6472delinsGATA	ENSP00000371729.3:p.Asp2157=
ENST00000382298.7:c.6469_6472delinsGATA	ENSP00000371735.3:p.Asp2157=
ENST00000402364.1:c.4219_4222delinsGATA	ENSP00000385844.1:p.Asp1407=
ENST00000423156.1:c.1058-7923_1058-7920delinsGATA	ENSP00000390925.1:n.1058-7923_1058-7920delinsGATA
ENST00000455470.5:c.2129+4038_2129+4041delinsGATA
NM_001278055.1:c.6028_6031delinsGATA	NP_001264984.1:p.Asp2010=
NM_014363.5:c.6469_6472delinsGATA	NP_055178.3:p.Asp2157=
XM_005266338.1:c.6496_6499delinsGATA	XP_005266395.1:p.Asp2166=
XM_011535038.1:c.6520_6523delinsGATA	XP_011533340.1:p.Asp2174=
XM_011535039.1:c.6487_6490delinsGATA	XP_011533341.1:p.Asp2163=
XM_005266338.2:c.6496_6499delinsGATA	XP_005266395.1:p.Asp2166=
XM_011535039.2:c.6487_6490delinsGATA	XP_011533341.1:p.Asp2163=
XM_017020539.1:c.6460_6463delinsGATA	XP_016876028.1:p.Asp2154=
XM_024449337.1:c.6496_6499delinsGATA	XP_024305105.1:p.Asp2166=
NM_014363.6:c.6469_6472delinsGATA MANE Select	NP_055178.3:p.Asp2157=
NM_001278055.2:c.6028_6031delinsGATA	NP_001264984.1:p.Asp2010=