Canonical Allele Identifier: CA16041630
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371265
ClinVar RCV Id: RCV000411869
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
NM_001278055.1:c.5303_5304del VV NP_001264984.1:p.His1768ArgfsTer19
NM_014363.5:c.5744_5745del VV 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
XM_011535039.2:c.5762_5763del
XM_017020539.1:c.5735_5736del XP_016876028.1:p.His1912ArgfsTer19
XM_024449337.1:c.5771_5772del XP_024305105.1:p.His1924ArgfsTer19
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:n.1058-8648_1058-8647del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+3313_2129+3314del