Canonical Allele Identifier: CA645372751
Community Standard Title: NM_005612.5(REST):c.2865_2866del (p.Asn958SerfsTer9)
Gene: REST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56931723_56931724del , CM000666.2:g.56931723_56931724del GRCh38
NC_000004.11:g.57797889_57797890del , CM000666.1:g.57797889_57797890del GRCh37
NC_000004.10:g.57492646_57492647del NCBI36
NG_029447.1:g.28848_28849del

Transcript Alleles

HGVS Amino-acid Change
NM_005612.5:c.2865_2866del MANE Select NP_005603.3:p.Asn958SerfsTer9
ENST00000309042.12:c.2865_2866del MANE Select ENSP00000311816.7:p.Asn958SerfsTer9
NM_001193508.1:c.2865_2866del NP_001180437.1:p.Asn958SerfsTer9
NM_001363453.1:c.2865_2866del NP_001350382.1:p.Asn958SerfsTer9
NM_001363453.2:c.2865_2866del NP_001350382.1:p.Asn958SerfsTer9
NM_005612.4:c.2865_2866del NP_005603.3:p.Asn958SerfsTer9
ENST00000309042.11:c.2865_2866del ENSP00000311816.7:p.Asn958SerfsTer9
ENST00000514063.2:c.*1892_*1893del ENSP00000501649.1:n.*1892_*1893del
ENST00000611211.2:c.*79-345_*79-344del ENSP00000479151.2:n.*79-345_*79-344del
ENST00000616975.5:c.*1892_*1893del ENSP00000484058.1:n.*1892_*1893del
ENST00000619101.4:c.2865_2866del ENSP00000484836.1:p.Asn958SerfsTer9
ENST00000619101.5:c.*1892_*1893del ENSP00000484836.2:n.*1892_*1893del
ENST00000622863.4:c.587-71_587-70del ENSP00000481650.1:n.587-71_587-70del
ENST00000638187.2:c.2781_2782del ENSP00000492006.2:p.Asn930SerfsTer9
ENST00000640168.2:c.898+20187_898+20188del ENSP00000490969.1:n.898+20187_898+20188del
ENST00000640343.2:c.982+11853_982+11854del ENSP00000492813.1:n.982+11853_982+11854del
ENST00000675105.1:c.2865_2866del ENSP00000502313.1:p.Asn958SerfsTer9
ENST00000675341.1:c.2418_2419del ENSP00000502488.1:p.Asn809SerfsTer9
XM_005265760.2:c.1899_1900del XP_005265817.1:p.Asn636SerfsTer9
XM_011534401.1:c.2865_2866del XP_011532703.1:p.Asn958SerfsTer9
XM_011534402.1:c.1887_1888del XP_011532704.1:p.Asn632SerfsTer9
XM_017008527.1:c.2781_2782del XP_016864016.1:p.Asn930SerfsTer9