Canonical Allele Identifier: CA2078633496
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333698_23333700delinsCAG , CM000675.2:g.23333698_23333700delinsCAG GRCh38
NC_000013.10:g.23907837_23907839delinsCAG , CM000675.1:g.23907837_23907839delinsCAG GRCh37
NC_000013.9:g.22805837_22805839delinsCAG NCBI36
NG_012342.1:g.105003_105005delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20085_2185+20087delinsCTG ENSP00000508399.1:n.2185+20085_2185+20087delinsCTG
ENST00000682944.1:c.10203_10205delinsCTG ENSP00000507173.1:p.Asn3401=
ENST00000683210.1:c.2185+20085_2185+20087delinsCTG ENSP00000506739.1:n.2185+20085_2185+20087delinsCTG
ENST00000683270.1:c.6445+3722_6445+3724delinsCTG ENSP00000507624.1:n.6445+3722_6445+3724delinsCTG
ENST00000683367.1:c.2177-4216_2177-4214delinsCTG ENSP00000507780.1:n.2177-4216_2177-4214delinsCTG
ENST00000683489.1:c.2292-3748_2292-3746delinsCTG ENSP00000508403.1:n.2292-3748_2292-3746delinsCTG
ENST00000683680.1:c.2319-3748_2319-3746delinsCTG ENSP00000507223.1:n.2319-3748_2319-3746delinsCTG
ENST00000684163.1:c.2204-4216_2204-4214delinsCTG ENSP00000508262.1:n.2204-4216_2204-4214delinsCTG
ENST00000684196.1:n.4543-4216_4543-4214delinsCTG
ENST00000684325.1:c.2186-12026_2186-12024delinsCTG ENSP00000508121.1:n.2186-12026_2186-12024delinsCTG
ENST00000684385.1:c.2221-4216_2221-4214delinsCTG ENSP00000507855.1:n.2221-4216_2221-4214delinsCTG
ENST00000684497.1:c.2186-11056_2186-11054delinsCTG ENSP00000507057.1:n.2186-11056_2186-11054delinsCTG
ENST00000382292.9:c.10176_10178delinsCTG MANE Select ENSP00000371729.3:p.Asn3392=
ENST00000423156.2:c.2186-4216_2186-4214delinsCTG ENSP00000390925.2:n.2186-4216_2186-4214delinsCTG
ENST00000455470.6:c.2432-4216_2432-4214delinsCTG ENSP00000406565.2:n.2432-4216_2432-4214delinsCTG
ENST00000382292.7:c.10176_10178delinsCTG ENSP00000371729.3:p.Asn3392=
ENST00000382298.7:c.10176_10178delinsCTG ENSP00000371735.3:p.Asn3392=
ENST00000402364.1:c.7926_7928delinsCTG ENSP00000385844.1:p.Asn2642=
ENST00000423156.1:c.1058-4216_1058-4214delinsCTG ENSP00000390925.1:n.1058-4216_1058-4214delinsCTG
ENST00000455470.5:c.2130-4216_2130-4214delinsCTG
NM_001278055.1:c.9735_9737delinsCTG NP_001264984.1:p.Asn3245=
NM_014363.5:c.10176_10178delinsCTG NP_055178.3:p.Asn3392=
XM_005266338.1:c.10203_10205delinsCTG XP_005266395.1:p.Asn3401=
XM_011535038.1:c.10227_10229delinsCTG XP_011533340.1:p.Asn3409=
XM_011535039.1:c.10194_10196delinsCTG XP_011533341.1:p.Asn3398=
XM_005266338.2:c.10203_10205delinsCTG XP_005266395.1:p.Asn3401=
XM_011535039.2:c.10194_10196delinsCTG XP_011533341.1:p.Asn3398=
XM_017020539.1:c.10167_10169delinsCTG XP_016876028.1:p.Asn3389=
XM_024449337.1:c.10203_10205delinsCTG XP_024305105.1:p.Asn3401=
NM_014363.6:c.10176_10178delinsCTG MANE Select NP_055178.3:p.Asn3392=
NM_001278055.2:c.9735_9737delinsCTG NP_001264984.1:p.Asn3245=