Canonical Allele Identifier: CA2078633922
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334044_23334058delinsAGTCTTTTAGAGTAT , CM000675.2:g.23334044_23334058delinsAGTCTTTTAGAGTAT GRCh38
NC_000013.10:g.23908183_23908197delinsAGTCTTTTAGAGTAT , CM000675.1:g.23908183_23908197delinsAGTCTTTTAGAGTAT GRCh37
NC_000013.9:g.22806183_22806197delinsAGTCTTTTAGAGTAT NCBI36
NG_012342.1:g.104645_104659delinsATACTCTAAAAGACT

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19727_2185+19741delinsATACTCTAAAAGACT ENSP00000508399.1:n.2185+19727_2185+19741...
ENST00000682944.1:c.9845_9859delinsATACTCTAAAAGACT ENSP00000507173.1:p.Asp3282=
ENST00000683210.1:c.2185+19727_2185+19741delinsATACTCTAAAAGACT ENSP00000506739.1:n.2185+19727_2185+19741...
ENST00000683270.1:c.6445+3364_6445+3378delinsATACTCTAAAAGACT ENSP00000507624.1:n.6445+3364_6445+3378de...
ENST00000683367.1:c.2177-4574_2177-4560delinsATACTCTAAAAGACT ENSP00000507780.1:n.2177-4574_2177-4560de...
ENST00000683489.1:c.2292-4106_2292-4092delinsATACTCTAAAAGACT ENSP00000508403.1:n.2292-4106_2292-4092de...
ENST00000683680.1:c.2319-4106_2319-4092delinsATACTCTAAAAGACT ENSP00000507223.1:n.2319-4106_2319-4092de...
ENST00000684163.1:c.2204-4574_2204-4560delinsATACTCTAAAAGACT ENSP00000508262.1:n.2204-4574_2204-4560de...
ENST00000684196.1:n.4543-4574_4543-4560delinsATACTCTAAAAGACT
ENST00000684325.1:c.2186-12384_2186-12370delinsATACTCTAAAAGACT ENSP00000508121.1:n.2186-12384_2186-12370...
ENST00000684385.1:c.2221-4574_2221-4560delinsATACTCTAAAAGACT ENSP00000507855.1:n.2221-4574_2221-4560de...
ENST00000684497.1:c.2186-11414_2186-11400delinsATACTCTAAAAGACT ENSP00000507057.1:n.2186-11414_2186-11400...
ENST00000382292.9:c.9818_9832delinsATACTCTAAAAGACT MANE Select ENSP00000371729.3:p.Asp3273=
ENST00000423156.2:c.2186-4574_2186-4560delinsATACTCTAAAAGACT ENSP00000390925.2:n.2186-4574_2186-4560de...
ENST00000455470.6:c.2432-4574_2432-4560delinsATACTCTAAAAGACT ENSP00000406565.2:n.2432-4574_2432-4560de...
ENST00000382292.7:c.9818_9832delinsATACTCTAAAAGACT ENSP00000371729.3:p.Asp3273=
ENST00000382298.7:c.9818_9832delinsATACTCTAAAAGACT ENSP00000371735.3:p.Asp3273=
ENST00000402364.1:c.7568_7582delinsATACTCTAAAAGACT ENSP00000385844.1:p.Asp2523=
ENST00000423156.1:c.1058-4574_1058-4560delinsATACTCTAAAAGACT ENSP00000390925.1:n.1058-4574_1058-4560de...
ENST00000455470.5:c.2130-4574_2130-4560delinsATACTCTAAAAGACT
NM_001278055.1:c.9377_9391delinsATACTCTAAAAGACT NP_001264984.1:p.Asp3126=
NM_014363.5:c.9818_9832delinsATACTCTAAAAGACT NP_055178.3:p.Asp3273=
XM_005266338.1:c.9845_9859delinsATACTCTAAAAGACT XP_005266395.1:p.Asp3282=
XM_011535038.1:c.9869_9883delinsATACTCTAAAAGACT XP_011533340.1:p.Asp3290=
XM_011535039.1:c.9836_9850delinsATACTCTAAAAGACT XP_011533341.1:p.Asp3279=
XM_005266338.2:c.9845_9859delinsATACTCTAAAAGACT XP_005266395.1:p.Asp3282=
XM_011535039.2:c.9836_9850delinsATACTCTAAAAGACT XP_011533341.1:p.Asp3279=
XM_017020539.1:c.9809_9823delinsATACTCTAAAAGACT XP_016876028.1:p.Asp3270=
XM_024449337.1:c.9845_9859delinsATACTCTAAAAGACT XP_024305105.1:p.Asp3282=
NM_014363.6:c.9818_9832delinsATACTCTAAAAGACT MANE Select NP_055178.3:p.Asp3273=
NM_001278055.2:c.9377_9391delinsATACTCTAAAAGACT NP_001264984.1:p.Asp3126=