Canonical Allele Identifier: CA16041630
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371265
dbSNP Id: rs1057517138

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338131_23338132del , CM000675.2:g.23338131_23338132del GRCh38
NC_000013.10:g.23912270_23912271del , CM000675.1:g.23912270_23912271del GRCh37
NC_000013.9:g.22810270_22810271del NCBI36
NG_012342.1:g.100571_100572del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15653_2185+15654del ENSP00000508399.1:n.2185+15653_2185+15654...
ENST00000682944.1:c.5771_5772del ENSP00000507173.1:p.His1924ArgfsTer19
ENST00000683210.1:c.2185+15653_2185+15654del ENSP00000506739.1:n.2185+15653_2185+15654...
ENST00000683270.1:c.5735_5736del ENSP00000507624.1:p.His1912ArgfsTer19
ENST00000683367.1:c.2177-8648_2177-8647del ENSP00000507780.1:n.2177-8648_2177-8647de...
ENST00000683489.1:c.2291+3453_2291+3454del ENSP00000508403.1:n.2291+3453_2291+3454de...
ENST00000683680.1:c.2318+3453_2318+3454del ENSP00000507223.1:n.2318+3453_2318+3454de...
ENST00000684163.1:c.2204-8648_2204-8647del ENSP00000508262.1:n.2204-8648_2204-8647de...
ENST00000684196.1:n.4543-8648_4543-8647del
ENST00000684325.1:c.2185+15653_2185+15654del ENSP00000508121.1:n.2185+15653_2185+15654...
ENST00000684385.1:c.2221-8648_2221-8647del ENSP00000507855.1:n.2221-8648_2221-8647de...
ENST00000684497.1:c.2186-15488_2186-15487del ENSP00000507057.1:n.2186-15488_2186-15487...
ENST00000382292.9:c.5744_5745del MANE Select ENSP00000371729.3:p.His1915ArgfsTer19
ENST00000423156.2:c.2186-8648_2186-8647del ENSP00000390925.2:n.2186-8648_2186-8647de...
ENST00000455470.6:c.2431+3313_2431+3314del ENSP00000406565.2:n.2431+3313_2431+3314de...
ENST00000382292.7:c.5744_5745del ENSP00000371729.3:p.His1915ArgfsTer19
ENST00000382298.7:c.5744_5745del ENSP00000371735.3:p.His1915ArgfsTer19
ENST00000402364.1:c.3494_3495del ENSP00000385844.1:p.His1165ArgfsTer19
ENST00000423156.1:c.1058-8648_1058-8647del ENSP00000390925.1:n.1058-8648_1058-8647de...
ENST00000455470.5:c.2129+3313_2129+3314del
NM_001278055.1:c.5303_5304del NP_001264984.1:p.His1768ArgfsTer19
NM_014363.5:c.5744_5745del NP_055178.3:p.His1915ArgfsTer19
XM_005266338.1:c.5771_5772del XP_005266395.1:p.His1924ArgfsTer19
XM_011535038.1:c.5795_5796del XP_011533340.1:p.His1932ArgfsTer19
XM_011535039.1:c.5762_5763del XP_011533341.1:p.His1921ArgfsTer19
XM_005266338.2:c.5771_5772del XP_005266395.1:p.His1924ArgfsTer19
XM_011535039.2:c.5762_5763del XP_011533341.1:p.His1921ArgfsTer19
XM_017020539.1:c.5735_5736del XP_016876028.1:p.His1912ArgfsTer19
XM_024449337.1:c.5771_5772del XP_024305105.1:p.His1924ArgfsTer19
NM_014363.6:c.5744_5745del MANE Select NP_055178.3:p.His1915ArgfsTer19
NM_001278055.2:c.5303_5304del NP_001264984.1:p.His1768ArgfsTer19