Canonical Allele Identifier: CA16041596
Gene: SACS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330593dup , CM000675.2:g.23330593dup GRCh38
NC_000013.10:g.23904732dup , CM000675.1:g.23904732dup GRCh37
NC_000013.9:g.22802732dup NCBI36
NG_012342.1:g.108110dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18478dup ENSP00000508399.1:n.2186-18478dup
ENST00000682944.1:c.13310dup ENSP00000507173.1:p.Tyr4437Ter
ENST00000683210.1:c.2185+23192dup ENSP00000506739.1:n.2185+23192dup
ENST00000683270.1:c.6446-1109dup ENSP00000507624.1:n.6446-1109dup
ENST00000683367.1:c.2177-1109dup ENSP00000507780.1:n.2177-1109dup
ENST00000683489.1:c.2292-641dup ENSP00000508403.1:n.2292-641dup
ENST00000683680.1:c.2319-641dup ENSP00000507223.1:n.2319-641dup
ENST00000684163.1:c.2204-1109dup ENSP00000508262.1:n.2204-1109dup
ENST00000684196.1:n.4543-1109dup
ENST00000684325.1:c.2186-8919dup ENSP00000508121.1:n.2186-8919dup
ENST00000684385.1:c.2221-1109dup ENSP00000507855.1:n.2221-1109dup
ENST00000684497.1:c.2186-7949dup ENSP00000507057.1:n.2186-7949dup
ENST00000382292.9:c.13283dup MANE Select ENSP00000371729.3:p.Tyr4428Ter
ENST00000423156.2:c.2186-1109dup ENSP00000390925.2:n.2186-1109dup
ENST00000455470.6:c.2432-1109dup ENSP00000406565.2:n.2432-1109dup
ENST00000382292.7:c.13283dup ENSP00000371729.3:p.Tyr4428Ter
ENST00000382298.7:c.13283dup ENSP00000371735.3:p.Tyr4428Ter
ENST00000402364.1:c.11033dup ENSP00000385844.1:p.Tyr3678Ter
ENST00000423156.1:c.1058-1109dup ENSP00000390925.1:n.1058-1109dup
ENST00000455470.5:c.2130-1109dup
NM_001278055.1:c.12842dup NP_001264984.1:p.Tyr4281Ter
NM_014363.5:c.13283dup NP_055178.3:p.Tyr4428Ter
XM_005266338.1:c.13310dup XP_005266395.1:p.Tyr4437Ter
XM_011535038.1:c.13334dup XP_011533340.1:p.Tyr4445Ter
XM_011535039.1:c.13301dup XP_011533341.1:p.Tyr4434Ter
XM_005266338.2:c.13310dup XP_005266395.1:p.Tyr4437Ter
XM_011535039.2:c.13301dup XP_011533341.1:p.Tyr4434Ter
XM_017020539.1:c.13274dup XP_016876028.1:p.Tyr4425Ter
XM_024449337.1:c.13310dup XP_024305105.1:p.Tyr4437Ter
NM_014363.6:c.13283dup MANE Select NP_055178.3:p.Tyr4428Ter
NM_001278055.2:c.12842dup NP_001264984.1:p.Tyr4281Ter
Search 100 bp 5'
Search 100 bp 3'