Canonical Allele Identifier: CA16041640
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370086
ClinVar RCV Id: RCV000409583
dbSNP Id: rs1057516222

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339837del , CM000675.2:g.23339837del GRCh38
NC_000013.10:g.23913976del , CM000675.1:g.23913976del GRCh37
NC_000013.9:g.22811976del NCBI36
NG_012342.1:g.98866del

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.4039del MANE Select ENSP00000371729.3:p.Leu1347SerfsTer14
ENST00000423156.2:c.2186-10353del ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+1608del ENSP00000406565.2:p.=
ENST00000382292.7:c.4039del ENSP00000371729.3:p.Leu1347SerfsTer14
ENST00000382298.7:c.4039del ENSP00000371735.3:p.Leu1347SerfsTer14
ENST00000402364.1:c.1789del ENSP00000385844.1:p.Leu597SerfsTer14
ENST00000423156.1:n.1058-10353del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+1608del
NM_001278055.1:c.3598del NP_001264984.1:p.Leu1200SerfsTer14
NM_014363.5:c.4039del NP_055178.3:p.Leu1347SerfsTer14
XM_005266338.1:c.4066del XP_005266395.1:p.Leu1356SerfsTer14
XM_011535038.1:c.4090del XP_011533340.1:p.Leu1364SerfsTer14
XM_011535039.1:c.4057del XP_011533341.1:p.Leu1353SerfsTer14
XM_005266338.2:c.4066del XP_005266395.1:p.Leu1356SerfsTer14
XM_011535039.2:c.4057del XP_011533341.1:p.Leu1353SerfsTer14
XM_017020539.1:c.4030del XP_016876028.1:p.Leu1344SerfsTer14
XM_024449337.1:c.4066del XP_024305105.1:p.Leu1356SerfsTer14
NM_014363.6:c.4039del MANE Select NP_055178.3:p.Leu1347SerfsTer14
NM_001278055.2:c.3598del NP_001264984.1:p.Leu1200SerfsTer14