Canonical Allele Identifier: CA2078629034
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331038_23331041delinsAAAG , CM000675.2:g.23331038_23331041delinsAAAG GRCh38
NC_000013.10:g.23905177_23905180delinsAAAG , CM000675.1:g.23905177_23905180delinsAAAG GRCh37
NC_000013.9:g.22803177_22803180delinsAAAG NCBI36
NG_012342.1:g.107662_107665delinsCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18926_2186-18923delinsCTTT ENSP00000508399.1:n.2186-18926_2186-18923delinsCTTT
ENST00000682944.1:c.12862_12865delinsCTTT ENSP00000507173.1:p.Leu4288=
ENST00000683210.1:c.2185+22744_2185+22747delinsCTTT ENSP00000506739.1:n.2185+22744_2185+22747delinsCTTT
ENST00000683270.1:c.6446-1557_6446-1554delinsCTTT ENSP00000507624.1:n.6446-1557_6446-1554delinsCTTT
ENST00000683367.1:c.2177-1557_2177-1554delinsCTTT ENSP00000507780.1:n.2177-1557_2177-1554delinsCTTT
ENST00000683489.1:c.2292-1089_2292-1086delinsCTTT ENSP00000508403.1:n.2292-1089_2292-1086delinsCTTT
ENST00000683680.1:c.2319-1089_2319-1086delinsCTTT ENSP00000507223.1:n.2319-1089_2319-1086delinsCTTT
ENST00000684163.1:c.2204-1557_2204-1554delinsCTTT ENSP00000508262.1:n.2204-1557_2204-1554delinsCTTT
ENST00000684196.1:n.4543-1557_4543-1554delinsCTTT
ENST00000684325.1:c.2186-9367_2186-9364delinsCTTT ENSP00000508121.1:n.2186-9367_2186-9364delinsCTTT
ENST00000684385.1:c.2221-1557_2221-1554delinsCTTT ENSP00000507855.1:n.2221-1557_2221-1554delinsCTTT
ENST00000684497.1:c.2186-8397_2186-8394delinsCTTT ENSP00000507057.1:n.2186-8397_2186-8394delinsCTTT
ENST00000382292.9:c.12835_12838delinsCTTT MANE Select ENSP00000371729.3:p.Leu4279=
ENST00000423156.2:c.2186-1557_2186-1554delinsCTTT ENSP00000390925.2:n.2186-1557_2186-1554delinsCTTT
ENST00000455470.6:c.2432-1557_2432-1554delinsCTTT ENSP00000406565.2:n.2432-1557_2432-1554delinsCTTT
ENST00000382292.7:c.12835_12838delinsCTTT ENSP00000371729.3:p.Leu4279=
ENST00000382298.7:c.12835_12838delinsCTTT ENSP00000371735.3:p.Leu4279=
ENST00000402364.1:c.10585_10588delinsCTTT ENSP00000385844.1:p.Leu3529=
ENST00000423156.1:c.1058-1557_1058-1554delinsCTTT ENSP00000390925.1:n.1058-1557_1058-1554delinsCTTT
ENST00000455470.5:c.2130-1557_2130-1554delinsCTTT
NM_001278055.1:c.12394_12397delinsCTTT NP_001264984.1:p.Leu4132=
NM_014363.5:c.12835_12838delinsCTTT NP_055178.3:p.Leu4279=
XM_005266338.1:c.12862_12865delinsCTTT XP_005266395.1:p.Leu4288=
XM_011535038.1:c.12886_12889delinsCTTT XP_011533340.1:p.Leu4296=
XM_011535039.1:c.12853_12856delinsCTTT XP_011533341.1:p.Leu4285=
XM_005266338.2:c.12862_12865delinsCTTT XP_005266395.1:p.Leu4288=
XM_011535039.2:c.12853_12856delinsCTTT XP_011533341.1:p.Leu4285=
XM_017020539.1:c.12826_12829delinsCTTT XP_016876028.1:p.Leu4276=
XM_024449337.1:c.12862_12865delinsCTTT XP_024305105.1:p.Leu4288=
NM_014363.6:c.12835_12838delinsCTTT MANE Select NP_055178.3:p.Leu4279=
NM_001278055.2:c.12394_12397delinsCTTT NP_001264984.1:p.Leu4132=