Canonical Allele Identifier: CA2078628828
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330948_23330953delinsCTTCTT , CM000675.2:g.23330948_23330953delinsCTTCTT GRCh38
NC_000013.10:g.23905087_23905092delinsCTTCTT , CM000675.1:g.23905087_23905092delinsCTTCTT GRCh37
NC_000013.9:g.22803087_22803092delinsCTTCTT NCBI36
NG_012342.1:g.107750_107755delinsAAGAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12923_12928delinsAAGAAG MANE Select ENSP00000371729.3:p.Lys4308=
ENST00000423156.2:c.2186-1469_2186-1464delinsAAGAAG ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1469_2432-1464delinsAAGAAG ENSP00000406565.2:p.=
ENST00000382292.7:c.12923_12928delinsAAGAAG ENSP00000371729.3:p.Lys4308=
ENST00000382298.7:c.12923_12928delinsAAGAAG ENSP00000371735.3:p.Lys4308=
ENST00000402364.1:c.10673_10678delinsAAGAAG ENSP00000385844.1:p.Lys3558=
ENST00000423156.1:n.1058-1469_1058-1464delinsAAGAAG ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1469_2130-1464delinsAAGAAG
NM_001278055.1:c.12482_12487delinsAAGAAG NP_001264984.1:p.Lys4161=
NM_014363.5:c.12923_12928delinsAAGAAG NP_055178.3:p.Lys4308=
XM_005266338.1:c.12950_12955delinsAAGAAG XP_005266395.1:p.Lys4317=
XM_011535038.1:c.12974_12979delinsAAGAAG XP_011533340.1:p.Lys4325=
XM_011535039.1:c.12941_12946delinsAAGAAG XP_011533341.1:p.Lys4314=
XM_005266338.2:c.12950_12955delinsAAGAAG XP_005266395.1:p.Lys4317=
XM_011535039.2:c.12941_12946delinsAAGAAG XP_011533341.1:p.Lys4314=
XM_017020539.1:c.12914_12919delinsAAGAAG XP_016876028.1:p.Lys4305=
XM_024449337.1:c.12950_12955delinsAAGAAG XP_024305105.1:p.Lys4317=
NM_014363.6:c.12923_12928delinsAAGAAG MANE Select NP_055178.3:p.Lys4308=
NM_001278055.2:c.12482_12487delinsAAGAAG NP_001264984.1:p.Lys4161=