Canonical Allele Identifier: CA2078624595
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336007_23336008delinsTC , CM000675.2:g.23336007_23336008delinsTC GRCh38
NC_000013.10:g.23910146_23910147delinsTC , CM000675.1:g.23910146_23910147delinsTC GRCh37
NC_000013.9:g.22808146_22808147delinsTC NCBI36
NG_012342.1:g.102695_102696delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17777_2185+17778delinsGA ENSP00000508399.1:n.2185+17777_2185+17778delinsGA
ENST00000682944.1:c.7895_7896delinsGA ENSP00000507173.1:p.Gly2632=
ENST00000683210.1:c.2185+17777_2185+17778delinsGA ENSP00000506739.1:n.2185+17777_2185+17778delinsGA
ENST00000683270.1:c.6445+1414_6445+1415delinsGA ENSP00000507624.1:n.6445+1414_6445+1415delinsGA
ENST00000683367.1:c.2177-6524_2177-6523delinsGA ENSP00000507780.1:n.2177-6524_2177-6523delinsGA
ENST00000683489.1:c.2291+5577_2291+5578delinsGA ENSP00000508403.1:n.2291+5577_2291+5578delinsGA
ENST00000683680.1:c.2318+5577_2318+5578delinsGA ENSP00000507223.1:n.2318+5577_2318+5578delinsGA
ENST00000684163.1:c.2204-6524_2204-6523delinsGA ENSP00000508262.1:n.2204-6524_2204-6523delinsGA
ENST00000684196.1:n.4543-6524_4543-6523delinsGA
ENST00000684325.1:c.2186-14334_2186-14333delinsGA ENSP00000508121.1:n.2186-14334_2186-14333delinsGA
ENST00000684385.1:c.2221-6524_2221-6523delinsGA ENSP00000507855.1:n.2221-6524_2221-6523delinsGA
ENST00000684497.1:c.2186-13364_2186-13363delinsGA ENSP00000507057.1:n.2186-13364_2186-13363delinsGA
ENST00000382292.9:c.7868_7869delinsGA MANE Select ENSP00000371729.3:p.Gly2623=
ENST00000423156.2:c.2186-6524_2186-6523delinsGA ENSP00000390925.2:n.2186-6524_2186-6523delinsGA
ENST00000455470.6:c.2431+5437_2431+5438delinsGA ENSP00000406565.2:n.2431+5437_2431+5438delinsGA
ENST00000382292.7:c.7868_7869delinsGA ENSP00000371729.3:p.Gly2623=
ENST00000382298.7:c.7868_7869delinsGA ENSP00000371735.3:p.Gly2623=
ENST00000402364.1:c.5618_5619delinsGA ENSP00000385844.1:p.Gly1873=
ENST00000423156.1:c.1058-6524_1058-6523delinsGA ENSP00000390925.1:n.1058-6524_1058-6523delinsGA
ENST00000455470.5:c.2129+5437_2129+5438delinsGA
NM_001278055.1:c.7427_7428delinsGA NP_001264984.1:p.Gly2476=
NM_014363.5:c.7868_7869delinsGA NP_055178.3:p.Gly2623=
XM_005266338.1:c.7895_7896delinsGA XP_005266395.1:p.Gly2632=
XM_011535038.1:c.7919_7920delinsGA XP_011533340.1:p.Gly2640=
XM_011535039.1:c.7886_7887delinsGA XP_011533341.1:p.Gly2629=
XM_005266338.2:c.7895_7896delinsGA XP_005266395.1:p.Gly2632=
XM_011535039.2:c.7886_7887delinsGA XP_011533341.1:p.Gly2629=
XM_017020539.1:c.7859_7860delinsGA XP_016876028.1:p.Gly2620=
XM_024449337.1:c.7895_7896delinsGA XP_024305105.1:p.Gly2632=
NM_014363.6:c.7868_7869delinsGA MANE Select NP_055178.3:p.Gly2623=
NM_001278055.2:c.7427_7428delinsGA NP_001264984.1:p.Gly2476=