Canonical Allele Identifier: CA16041643
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370786
ClinVar RCV Id: RCV000412355
dbSNP Id: rs1057516767

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340810del , CM000675.2:g.23340810del GRCh38
NC_000013.10:g.23914949del , CM000675.1:g.23914949del GRCh37
NC_000013.9:g.22812949del NCBI36
NG_012342.1:g.97893del

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.3066del MANE Select ENSP00000371729.3:p.Asn1025MetfsTer10
ENST00000423156.2:c.2186-11326del ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+635del ENSP00000406565.2:p.=
ENST00000382292.7:c.3066del ENSP00000371729.3:p.Asn1025MetfsTer10
ENST00000382298.7:c.3066del ENSP00000371735.3:p.Asn1025MetfsTer10
ENST00000402364.1:c.816del ENSP00000385844.1:p.Asn275MetfsTer10
ENST00000423156.1:n.1058-11326del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+635del
NM_001278055.1:c.2625del NP_001264984.1:p.Asn878MetfsTer10
NM_014363.5:c.3066del NP_055178.3:p.Asn1025MetfsTer10
XM_005266338.1:c.3093del XP_005266395.1:p.Asn1034MetfsTer10
XM_011535038.1:c.3117del XP_011533340.1:p.Asn1042MetfsTer10
XM_011535039.1:c.3084del XP_011533341.1:p.Asn1031MetfsTer10
XM_005266338.2:c.3093del XP_005266395.1:p.Asn1034MetfsTer10
XM_011535039.2:c.3084del XP_011533341.1:p.Asn1031MetfsTer10
XM_017020539.1:c.3057del XP_016876028.1:p.Asn1022MetfsTer10
XM_024449337.1:c.3093del XP_024305105.1:p.Asn1034MetfsTer10
NM_014363.6:c.3066del MANE Select NP_055178.3:p.Asn1025MetfsTer10
NM_001278055.2:c.2625del NP_001264984.1:p.Asn878MetfsTer10