Canonical Allele Identifier: CA912980151

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910146_23910147del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336007_23336008del , CM000675.2:g.23336007_23336008del	GRCh38
NC_000013.10:g.23910146_23910147del , CM000675.1:g.23910146_23910147del	GRCh37
NC_000013.9:g.22808146_22808147del	NCBI36
NG_012342.1:g.102695_102696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17777_2185+17778del	ENSP00000508399.1:n.2185+17777_2185+17778del
ENST00000682944.1:c.7895_7896del	ENSP00000507173.1:p.Gly2632AspfsTer20
ENST00000683210.1:c.2185+17777_2185+17778del	ENSP00000506739.1:n.2185+17777_2185+17778del
ENST00000683270.1:c.6445+1414_6445+1415del	ENSP00000507624.1:n.6445+1414_6445+1415del
ENST00000683367.1:c.2177-6524_2177-6523del	ENSP00000507780.1:n.2177-6524_2177-6523del
ENST00000683489.1:c.2291+5577_2291+5578del	ENSP00000508403.1:n.2291+5577_2291+5578del
ENST00000683680.1:c.2318+5577_2318+5578del	ENSP00000507223.1:n.2318+5577_2318+5578del
ENST00000684163.1:c.2204-6524_2204-6523del	ENSP00000508262.1:n.2204-6524_2204-6523del
ENST00000684196.1:n.4543-6524_4543-6523del
ENST00000684325.1:c.2186-14334_2186-14333del	ENSP00000508121.1:n.2186-14334_2186-14333del
ENST00000684385.1:c.2221-6524_2221-6523del	ENSP00000507855.1:n.2221-6524_2221-6523del
ENST00000684497.1:c.2186-13364_2186-13363del	ENSP00000507057.1:n.2186-13364_2186-13363del
ENST00000382292.9:c.7868_7869del MANE Select	ENSP00000371729.3:p.Gly2623AspfsTer20
ENST00000423156.2:c.2186-6524_2186-6523del	ENSP00000390925.2:n.2186-6524_2186-6523del
ENST00000455470.6:c.2431+5437_2431+5438del	ENSP00000406565.2:n.2431+5437_2431+5438del
ENST00000382292.7:c.7868_7869del	ENSP00000371729.3:p.Gly2623AspfsTer20
ENST00000382298.7:c.7868_7869del	ENSP00000371735.3:p.Gly2623AspfsTer20
ENST00000402364.1:c.5618_5619del	ENSP00000385844.1:p.Gly1873AspfsTer20
ENST00000423156.1:c.1058-6524_1058-6523del	ENSP00000390925.1:n.1058-6524_1058-6523del
ENST00000455470.5:c.2129+5437_2129+5438del
NM_001278055.1:c.7427_7428del	NP_001264984.1:p.Gly2476AspfsTer20
NM_014363.5:c.7868_7869del	NP_055178.3:p.Gly2623AspfsTer20
XM_005266338.1:c.7895_7896del	XP_005266395.1:p.Gly2632AspfsTer20
XM_011535038.1:c.7919_7920del	XP_011533340.1:p.Gly2640AspfsTer20
XM_011535039.1:c.7886_7887del	XP_011533341.1:p.Gly2629AspfsTer20
XM_005266338.2:c.7895_7896del	XP_005266395.1:p.Gly2632AspfsTer20
XM_011535039.2:c.7886_7887del	XP_011533341.1:p.Gly2629AspfsTer20
XM_017020539.1:c.7859_7860del	XP_016876028.1:p.Gly2620AspfsTer20
XM_024449337.1:c.7895_7896del	XP_024305105.1:p.Gly2632AspfsTer20
NM_014363.6:c.7868_7869del MANE Select	NP_055178.3:p.Gly2623AspfsTer20
NM_001278055.2:c.7427_7428del	NP_001264984.1:p.Gly2476AspfsTer20