Canonical Allele Identifier: CA2078629053
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331040_23331043delinsAGAG , CM000675.2:g.23331040_23331043delinsAGAG GRCh38
NC_000013.10:g.23905179_23905182delinsAGAG , CM000675.1:g.23905179_23905182delinsAGAG GRCh37
NC_000013.9:g.22803179_22803182delinsAGAG NCBI36
NG_012342.1:g.107660_107663delinsCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18928_2186-18925delinsCTCT ENSP00000508399.1:n.2186-18928_2186-18925delinsCTCT
ENST00000682944.1:c.12860_12863delinsCTCT ENSP00000507173.1:p.Pro4287=
ENST00000683210.1:c.2185+22742_2185+22745delinsCTCT ENSP00000506739.1:n.2185+22742_2185+22745delinsCTCT
ENST00000683270.1:c.6446-1559_6446-1556delinsCTCT ENSP00000507624.1:n.6446-1559_6446-1556delinsCTCT
ENST00000683367.1:c.2177-1559_2177-1556delinsCTCT ENSP00000507780.1:n.2177-1559_2177-1556delinsCTCT
ENST00000683489.1:c.2292-1091_2292-1088delinsCTCT ENSP00000508403.1:n.2292-1091_2292-1088delinsCTCT
ENST00000683680.1:c.2319-1091_2319-1088delinsCTCT ENSP00000507223.1:n.2319-1091_2319-1088delinsCTCT
ENST00000684163.1:c.2204-1559_2204-1556delinsCTCT ENSP00000508262.1:n.2204-1559_2204-1556delinsCTCT
ENST00000684196.1:n.4543-1559_4543-1556delinsCTCT
ENST00000684325.1:c.2186-9369_2186-9366delinsCTCT ENSP00000508121.1:n.2186-9369_2186-9366delinsCTCT
ENST00000684385.1:c.2221-1559_2221-1556delinsCTCT ENSP00000507855.1:n.2221-1559_2221-1556delinsCTCT
ENST00000684497.1:c.2186-8399_2186-8396delinsCTCT ENSP00000507057.1:n.2186-8399_2186-8396delinsCTCT
ENST00000382292.9:c.12833_12836delinsCTCT MANE Select ENSP00000371729.3:p.Pro4278=
ENST00000423156.2:c.2186-1559_2186-1556delinsCTCT ENSP00000390925.2:n.2186-1559_2186-1556delinsCTCT
ENST00000455470.6:c.2432-1559_2432-1556delinsCTCT ENSP00000406565.2:n.2432-1559_2432-1556delinsCTCT
ENST00000382292.7:c.12833_12836delinsCTCT ENSP00000371729.3:p.Pro4278=
ENST00000382298.7:c.12833_12836delinsCTCT ENSP00000371735.3:p.Pro4278=
ENST00000402364.1:c.10583_10586delinsCTCT ENSP00000385844.1:p.Pro3528=
ENST00000423156.1:c.1058-1559_1058-1556delinsCTCT ENSP00000390925.1:n.1058-1559_1058-1556delinsCTCT
ENST00000455470.5:c.2130-1559_2130-1556delinsCTCT
NM_001278055.1:c.12392_12395delinsCTCT NP_001264984.1:p.Pro4131=
NM_014363.5:c.12833_12836delinsCTCT NP_055178.3:p.Pro4278=
XM_005266338.1:c.12860_12863delinsCTCT XP_005266395.1:p.Pro4287=
XM_011535038.1:c.12884_12887delinsCTCT XP_011533340.1:p.Pro4295=
XM_011535039.1:c.12851_12854delinsCTCT XP_011533341.1:p.Pro4284=
XM_005266338.2:c.12860_12863delinsCTCT XP_005266395.1:p.Pro4287=
XM_011535039.2:c.12851_12854delinsCTCT XP_011533341.1:p.Pro4284=
XM_017020539.1:c.12824_12827delinsCTCT XP_016876028.1:p.Pro4275=
XM_024449337.1:c.12860_12863delinsCTCT XP_024305105.1:p.Pro4287=
NM_014363.6:c.12833_12836delinsCTCT MANE Select NP_055178.3:p.Pro4278=
NM_001278055.2:c.12392_12395delinsCTCT NP_001264984.1:p.Pro4131=