Canonical Allele Identifier: CA2078633302
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333498_23333504delinsTTAAGTG , CM000675.2:g.23333498_23333504delinsTTAAGTG GRCh38
NC_000013.10:g.23907637_23907643delinsTTAAGTG , CM000675.1:g.23907637_23907643delinsTTAAGTG GRCh37
NC_000013.9:g.22805637_22805643delinsTTAAGTG NCBI36
NG_012342.1:g.105199_105205delinsCACTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20281_2185+20287delinsCACTTAA ENSP00000508399.1:n.2185+20281_2185+20287delinsCACTTAA
ENST00000682944.1:c.10399_10405delinsCACTTAA ENSP00000507173.1:p.His3467=
ENST00000683210.1:c.2185+20281_2185+20287delinsCACTTAA ENSP00000506739.1:n.2185+20281_2185+20287delinsCACTTAA
ENST00000683270.1:c.6445+3918_6445+3924delinsCACTTAA ENSP00000507624.1:n.6445+3918_6445+3924delinsCACTTAA
ENST00000683367.1:c.2177-4020_2177-4014delinsCACTTAA ENSP00000507780.1:n.2177-4020_2177-4014delinsCACTTAA
ENST00000683489.1:c.2292-3552_2292-3546delinsCACTTAA ENSP00000508403.1:n.2292-3552_2292-3546delinsCACTTAA
ENST00000683680.1:c.2319-3552_2319-3546delinsCACTTAA ENSP00000507223.1:n.2319-3552_2319-3546delinsCACTTAA
ENST00000684163.1:c.2204-4020_2204-4014delinsCACTTAA ENSP00000508262.1:n.2204-4020_2204-4014delinsCACTTAA
ENST00000684196.1:n.4543-4020_4543-4014delinsCACTTAA
ENST00000684325.1:c.2186-11830_2186-11824delinsCACTTAA ENSP00000508121.1:n.2186-11830_2186-11824delinsCACTTAA
ENST00000684385.1:c.2221-4020_2221-4014delinsCACTTAA ENSP00000507855.1:n.2221-4020_2221-4014delinsCACTTAA
ENST00000684497.1:c.2186-10860_2186-10854delinsCACTTAA ENSP00000507057.1:n.2186-10860_2186-10854delinsCACTTAA
ENST00000382292.9:c.10372_10378delinsCACTTAA MANE Select ENSP00000371729.3:p.His3458=
ENST00000423156.2:c.2186-4020_2186-4014delinsCACTTAA ENSP00000390925.2:n.2186-4020_2186-4014delinsCACTTAA
ENST00000455470.6:c.2432-4020_2432-4014delinsCACTTAA ENSP00000406565.2:n.2432-4020_2432-4014delinsCACTTAA
ENST00000382292.7:c.10372_10378delinsCACTTAA ENSP00000371729.3:p.His3458=
ENST00000382298.7:c.10372_10378delinsCACTTAA ENSP00000371735.3:p.His3458=
ENST00000402364.1:c.8122_8128delinsCACTTAA ENSP00000385844.1:p.His2708=
ENST00000423156.1:c.1058-4020_1058-4014delinsCACTTAA ENSP00000390925.1:n.1058-4020_1058-4014delinsCACTTAA
ENST00000455470.5:c.2130-4020_2130-4014delinsCACTTAA
NM_001278055.1:c.9931_9937delinsCACTTAA NP_001264984.1:p.His3311=
NM_014363.5:c.10372_10378delinsCACTTAA NP_055178.3:p.His3458=
XM_005266338.1:c.10399_10405delinsCACTTAA XP_005266395.1:p.His3467=
XM_011535038.1:c.10423_10429delinsCACTTAA XP_011533340.1:p.His3475=
XM_011535039.1:c.10390_10396delinsCACTTAA XP_011533341.1:p.His3464=
XM_005266338.2:c.10399_10405delinsCACTTAA XP_005266395.1:p.His3467=
XM_011535039.2:c.10390_10396delinsCACTTAA XP_011533341.1:p.His3464=
XM_017020539.1:c.10363_10369delinsCACTTAA XP_016876028.1:p.His3455=
XM_024449337.1:c.10399_10405delinsCACTTAA XP_024305105.1:p.His3467=
NM_014363.6:c.10372_10378delinsCACTTAA MANE Select NP_055178.3:p.His3458=
NM_001278055.2:c.9931_9937delinsCACTTAA NP_001264984.1:p.His3311=