Canonical Allele Identifier: CA2558971056
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337151_23337152insAT , CM000675.2:g.23337151_23337152insAT GRCh38
NC_000013.10:g.23911290_23911291insAT , CM000675.1:g.23911290_23911291insAT GRCh37
NC_000013.9:g.22809290_22809291insAT NCBI36
NG_012342.1:g.101551_101552insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16633_2185+16634insAT ENSP00000508399.1:n.2185+16633_2185+16634insAT
ENST00000682944.1:c.6751_6752insAT ENSP00000507173.1:p.Ala2251AspfsTer13
ENST00000683210.1:c.2185+16633_2185+16634insAT ENSP00000506739.1:n.2185+16633_2185+16634insAT
ENST00000683270.1:c.6445+270_6445+271insAT ENSP00000507624.1:n.6445+270_6445+271insAT
ENST00000683367.1:c.2177-7668_2177-7667insAT ENSP00000507780.1:n.2177-7668_2177-7667insAT
ENST00000683489.1:c.2291+4433_2291+4434insAT ENSP00000508403.1:n.2291+4433_2291+4434insAT
ENST00000683680.1:c.2318+4433_2318+4434insAT ENSP00000507223.1:n.2318+4433_2318+4434insAT
ENST00000684163.1:c.2204-7668_2204-7667insAT ENSP00000508262.1:n.2204-7668_2204-7667insAT
ENST00000684196.1:n.4543-7668_4543-7667insAT
ENST00000684325.1:c.2186-15478_2186-15477insAT ENSP00000508121.1:n.2186-15478_2186-15477insAT
ENST00000684385.1:c.2221-7668_2221-7667insAT ENSP00000507855.1:n.2221-7668_2221-7667insAT
ENST00000684497.1:c.2186-14508_2186-14507insAT ENSP00000507057.1:n.2186-14508_2186-14507insAT
ENST00000382292.9:c.6724_6725insAT MANE Select ENSP00000371729.3:p.Ala2242AspfsTer13
ENST00000423156.2:c.2186-7668_2186-7667insAT ENSP00000390925.2:n.2186-7668_2186-7667insAT
ENST00000455470.6:c.2431+4293_2431+4294insAT ENSP00000406565.2:n.2431+4293_2431+4294insAT
ENST00000382292.7:c.6724_6725insAT ENSP00000371729.3:p.Ala2242AspfsTer13
ENST00000382298.7:c.6724_6725insAT ENSP00000371735.3:p.Ala2242AspfsTer13
ENST00000402364.1:c.4474_4475insAT ENSP00000385844.1:p.Ala1492AspfsTer13
ENST00000423156.1:c.1058-7668_1058-7667insAT ENSP00000390925.1:n.1058-7668_1058-7667insAT
ENST00000455470.5:c.2129+4293_2129+4294insAT
NM_001278055.1:c.6283_6284insAT NP_001264984.1:p.Ala2095AspfsTer13
NM_014363.5:c.6724_6725insAT NP_055178.3:p.Ala2242AspfsTer13
XM_005266338.1:c.6751_6752insAT XP_005266395.1:p.Ala2251AspfsTer13
XM_011535038.1:c.6775_6776insAT XP_011533340.1:p.Ala2259AspfsTer13
XM_011535039.1:c.6742_6743insAT XP_011533341.1:p.Ala2248AspfsTer13
XM_005266338.2:c.6751_6752insAT XP_005266395.1:p.Ala2251AspfsTer13
XM_011535039.2:c.6742_6743insAT XP_011533341.1:p.Ala2248AspfsTer13
XM_017020539.1:c.6715_6716insAT XP_016876028.1:p.Ala2239AspfsTer13
XM_024449337.1:c.6751_6752insAT XP_024305105.1:p.Ala2251AspfsTer13
NM_014363.6:c.6724_6725insAT MANE Select NP_055178.3:p.Ala2242AspfsTer13
NM_001278055.2:c.6283_6284insAT NP_001264984.1:p.Ala2095AspfsTer13