Canonical Allele Identifier: CA645591576
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330952_23330955del , CM000675.2:g.23330952_23330955del GRCh38
NC_000013.10:g.23905091_23905094del , CM000675.1:g.23905091_23905094del GRCh37
NC_000013.9:g.22803091_22803094del NCBI36
NG_012342.1:g.107748_107751del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18840_2186-18837del ENSP00000508399.1:n.2186-18840_2186-18837...
ENST00000682944.1:c.12948_12951del ENSP00000507173.1:p.Glu4318Ter
ENST00000683210.1:c.2185+22830_2185+22833del ENSP00000506739.1:n.2185+22830_2185+22833...
ENST00000683270.1:c.6446-1471_6446-1468del ENSP00000507624.1:n.6446-1471_6446-1468de...
ENST00000683367.1:c.2177-1471_2177-1468del ENSP00000507780.1:n.2177-1471_2177-1468de...
ENST00000683489.1:c.2292-1003_2292-1000del ENSP00000508403.1:n.2292-1003_2292-1000de...
ENST00000683680.1:c.2319-1003_2319-1000del ENSP00000507223.1:n.2319-1003_2319-1000de...
ENST00000684163.1:c.2204-1471_2204-1468del ENSP00000508262.1:n.2204-1471_2204-1468de...
ENST00000684196.1:n.4543-1471_4543-1468del
ENST00000684325.1:c.2186-9281_2186-9278del ENSP00000508121.1:n.2186-9281_2186-9278de...
ENST00000684385.1:c.2221-1471_2221-1468del ENSP00000507855.1:n.2221-1471_2221-1468de...
ENST00000684497.1:c.2186-8311_2186-8308del ENSP00000507057.1:n.2186-8311_2186-8308de...
ENST00000382292.9:c.12921_12924del MANE Select ENSP00000371729.3:p.Glu4309Ter
ENST00000423156.2:c.2186-1471_2186-1468del ENSP00000390925.2:n.2186-1471_2186-1468de...
ENST00000455470.6:c.2432-1471_2432-1468del ENSP00000406565.2:n.2432-1471_2432-1468de...
ENST00000382292.7:c.12921_12924del ENSP00000371729.3:p.Glu4309Ter
ENST00000382298.7:c.12921_12924del ENSP00000371735.3:p.Glu4309Ter
ENST00000402364.1:c.10671_10674del ENSP00000385844.1:p.Glu3559Ter
ENST00000423156.1:c.1058-1471_1058-1468del ENSP00000390925.1:n.1058-1471_1058-1468de...
ENST00000455470.5:c.2130-1471_2130-1468del
NM_001278055.1:c.12480_12483del NP_001264984.1:p.Glu4162Ter
NM_014363.5:c.12921_12924del NP_055178.3:p.Glu4309Ter
XM_005266338.1:c.12948_12951del XP_005266395.1:p.Glu4318Ter
XM_011535038.1:c.12972_12975del XP_011533340.1:p.Glu4326Ter
XM_011535039.1:c.12939_12942del XP_011533341.1:p.Glu4315Ter
XM_005266338.2:c.12948_12951del XP_005266395.1:p.Glu4318Ter
XM_011535039.2:c.12939_12942del XP_011533341.1:p.Glu4315Ter
XM_017020539.1:c.12912_12915del XP_016876028.1:p.Glu4306Ter
XM_024449337.1:c.12948_12951del XP_024305105.1:p.Glu4318Ter
NM_014363.6:c.12921_12924del MANE Select NP_055178.3:p.Glu4309Ter
NM_001278055.2:c.12480_12483del NP_001264984.1:p.Glu4162Ter