Canonical Allele Identifier: CA16041626
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370621
dbSNP Id: rs1057516635

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337428_23337432del , CM000675.2:g.23337428_23337432del GRCh38
NC_000013.10:g.23911567_23911571del , CM000675.1:g.23911567_23911571del GRCh37
NC_000013.9:g.22809567_22809571del NCBI36
NG_012342.1:g.101275_101279del

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.6448_6452del MANE Select ENSP00000371729.3:p.Gln2150ArgfsTer6
ENST00000423156.2:c.2186-7944_2186-7940del ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+4017_2431+4021del ENSP00000406565.2:p.=
ENST00000382292.7:c.6448_6452del ENSP00000371729.3:p.Gln2150ArgfsTer6
ENST00000382298.7:c.6448_6452del ENSP00000371735.3:p.Gln2150ArgfsTer6
ENST00000402364.1:c.4198_4202del ENSP00000385844.1:p.Gln1400ArgfsTer6
ENST00000423156.1:n.1058-7944_1058-7940del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+4017_2129+4021del
NM_001278055.1:c.6007_6011del NP_001264984.1:p.Gln2003ArgfsTer6
NM_014363.5:c.6448_6452del NP_055178.3:p.Gln2150ArgfsTer6
XM_005266338.1:c.6475_6479del XP_005266395.1:p.Gln2159ArgfsTer6
XM_011535038.1:c.6499_6503del XP_011533340.1:p.Gln2167ArgfsTer6
XM_011535039.1:c.6466_6470del XP_011533341.1:p.Gln2156ArgfsTer6
XM_005266338.2:c.6475_6479del XP_005266395.1:p.Gln2159ArgfsTer6
XM_011535039.2:c.6466_6470del XP_011533341.1:p.Gln2156ArgfsTer6
XM_017020539.1:c.6439_6443del XP_016876028.1:p.Gln2147ArgfsTer6
XM_024449337.1:c.6475_6479del XP_024305105.1:p.Gln2159ArgfsTer6
NM_014363.6:c.6448_6452del MANE Select NP_055178.3:p.Gln2150ArgfsTer6
NM_001278055.2:c.6007_6011del NP_001264984.1:p.Gln2003ArgfsTer6