Canonical Allele Identifier: CA912980183

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911543_23911546del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337404_23337407del , CM000675.2:g.23337404_23337407del	GRCh38
NC_000013.10:g.23911543_23911546del , CM000675.1:g.23911543_23911546del	GRCh37
NC_000013.9:g.22809543_22809546del	NCBI36
NG_012342.1:g.101296_101299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16378_2185+16381del	ENSP00000508399.1:n.2185+16378_2185+16381del
ENST00000682944.1:c.6496_6499del	ENSP00000507173.1:p.Asp2166PhefsTer7
ENST00000683210.1:c.2185+16378_2185+16381del	ENSP00000506739.1:n.2185+16378_2185+16381del
ENST00000683270.1:c.6445+15_6445+18del	ENSP00000507624.1:n.6445+15_6445+18del
ENST00000683367.1:c.2177-7923_2177-7920del	ENSP00000507780.1:n.2177-7923_2177-7920del
ENST00000683489.1:c.2291+4178_2291+4181del	ENSP00000508403.1:n.2291+4178_2291+4181del
ENST00000683680.1:c.2318+4178_2318+4181del	ENSP00000507223.1:n.2318+4178_2318+4181del
ENST00000684163.1:c.2204-7923_2204-7920del	ENSP00000508262.1:n.2204-7923_2204-7920del
ENST00000684196.1:n.4543-7923_4543-7920del
ENST00000684325.1:c.2186-15733_2186-15730del	ENSP00000508121.1:n.2186-15733_2186-15730del
ENST00000684385.1:c.2221-7923_2221-7920del	ENSP00000507855.1:n.2221-7923_2221-7920del
ENST00000684497.1:c.2186-14763_2186-14760del	ENSP00000507057.1:n.2186-14763_2186-14760del
ENST00000382292.9:c.6469_6472del MANE Select	ENSP00000371729.3:p.Asp2157PhefsTer7
ENST00000423156.2:c.2186-7923_2186-7920del	ENSP00000390925.2:n.2186-7923_2186-7920del
ENST00000455470.6:c.2431+4038_2431+4041del	ENSP00000406565.2:n.2431+4038_2431+4041del
ENST00000382292.7:c.6469_6472del	ENSP00000371729.3:p.Asp2157PhefsTer7
ENST00000382298.7:c.6469_6472del	ENSP00000371735.3:p.Asp2157PhefsTer7
ENST00000402364.1:c.4219_4222del	ENSP00000385844.1:p.Asp1407PhefsTer7
ENST00000423156.1:c.1058-7923_1058-7920del	ENSP00000390925.1:n.1058-7923_1058-7920del
ENST00000455470.5:c.2129+4038_2129+4041del
NM_001278055.1:c.6028_6031del	NP_001264984.1:p.Asp2010PhefsTer7
NM_014363.5:c.6469_6472del	NP_055178.3:p.Asp2157PhefsTer7
XM_005266338.1:c.6496_6499del	XP_005266395.1:p.Asp2166PhefsTer7
XM_011535038.1:c.6520_6523del	XP_011533340.1:p.Asp2174PhefsTer7
XM_011535039.1:c.6487_6490del	XP_011533341.1:p.Asp2163PhefsTer7
XM_005266338.2:c.6496_6499del	XP_005266395.1:p.Asp2166PhefsTer7
XM_011535039.2:c.6487_6490del	XP_011533341.1:p.Asp2163PhefsTer7
XM_017020539.1:c.6460_6463del	XP_016876028.1:p.Asp2154PhefsTer7
XM_024449337.1:c.6496_6499del	XP_024305105.1:p.Asp2166PhefsTer7
NM_014363.6:c.6469_6472del MANE Select	NP_055178.3:p.Asp2157PhefsTer7
NM_001278055.2:c.6028_6031del	NP_001264984.1:p.Asp2010PhefsTer7