Canonical Allele Identifier: CA912980203
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333980_23333983del , CM000675.2:g.23333980_23333983del GRCh38
NC_000013.10:g.23908119_23908122del , CM000675.1:g.23908119_23908122del GRCh37
NC_000013.9:g.22806119_22806122del NCBI36
NG_012342.1:g.104720_104723del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19802_2185+19805del ENSP00000508399.1:n.2185+19802_2185+19805...
ENST00000682944.1:c.9920_9923del ENSP00000507173.1:p.Gly3307ValfsTer26
ENST00000683210.1:c.2185+19802_2185+19805del ENSP00000506739.1:n.2185+19802_2185+19805...
ENST00000683270.1:c.6445+3439_6445+3442del ENSP00000507624.1:n.6445+3439_6445+3442de...
ENST00000683367.1:c.2177-4499_2177-4496del ENSP00000507780.1:n.2177-4499_2177-4496de...
ENST00000683489.1:c.2292-4031_2292-4028del ENSP00000508403.1:n.2292-4031_2292-4028de...
ENST00000683680.1:c.2319-4031_2319-4028del ENSP00000507223.1:n.2319-4031_2319-4028de...
ENST00000684163.1:c.2204-4499_2204-4496del ENSP00000508262.1:n.2204-4499_2204-4496de...
ENST00000684196.1:n.4543-4499_4543-4496del
ENST00000684325.1:c.2186-12309_2186-12306del ENSP00000508121.1:n.2186-12309_2186-12306...
ENST00000684385.1:c.2221-4499_2221-4496del ENSP00000507855.1:n.2221-4499_2221-4496de...
ENST00000684497.1:c.2186-11339_2186-11336del ENSP00000507057.1:n.2186-11339_2186-11336...
ENST00000382292.9:c.9893_9896del MANE Select ENSP00000371729.3:p.Gly3298ValfsTer26
ENST00000423156.2:c.2186-4499_2186-4496del ENSP00000390925.2:n.2186-4499_2186-4496de...
ENST00000455470.6:c.2432-4499_2432-4496del ENSP00000406565.2:n.2432-4499_2432-4496de...
ENST00000382292.7:c.9893_9896del ENSP00000371729.3:p.Gly3298ValfsTer26
ENST00000382298.7:c.9893_9896del ENSP00000371735.3:p.Gly3298ValfsTer26
ENST00000402364.1:c.7643_7646del ENSP00000385844.1:p.Gly2548ValfsTer26
ENST00000423156.1:c.1058-4499_1058-4496del ENSP00000390925.1:n.1058-4499_1058-4496de...
ENST00000455470.5:c.2130-4499_2130-4496del
NM_001278055.1:c.9452_9455del NP_001264984.1:p.Gly3151ValfsTer26
NM_014363.5:c.9893_9896del NP_055178.3:p.Gly3298ValfsTer26
XM_005266338.1:c.9920_9923del XP_005266395.1:p.Gly3307ValfsTer26
XM_011535038.1:c.9944_9947del XP_011533340.1:p.Gly3315ValfsTer26
XM_011535039.1:c.9911_9914del XP_011533341.1:p.Gly3304ValfsTer26
XM_005266338.2:c.9920_9923del XP_005266395.1:p.Gly3307ValfsTer26
XM_011535039.2:c.9911_9914del XP_011533341.1:p.Gly3304ValfsTer26
XM_017020539.1:c.9884_9887del XP_016876028.1:p.Gly3295ValfsTer26
XM_024449337.1:c.9920_9923del XP_024305105.1:p.Gly3307ValfsTer26
NM_014363.6:c.9893_9896del MANE Select NP_055178.3:p.Gly3298ValfsTer26
NM_001278055.2:c.9452_9455del NP_001264984.1:p.Gly3151ValfsTer26