Canonical Allele Identifier: CA2499217306
Community Standard Title: NM_005612.5(REST):c.2771_2793dup (p.Glu932LysfsTer3)
Gene: REST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56931629_56931651dup , CM000666.2:g.56931629_56931651dup GRCh38
NC_000004.11:g.57797795_57797817dup , CM000666.1:g.57797795_57797817dup GRCh37
NC_000004.10:g.57492552_57492574dup NCBI36
NG_029447.1:g.28754_28776dup

Transcript Alleles

HGVS Amino-acid Change
NM_005612.5:c.2771_2793dup MANE Select NP_005603.3:p.Glu932LysfsTer3
ENST00000309042.12:c.2771_2793dup MANE Select ENSP00000311816.7:p.Glu932LysfsTer3
NM_001193508.1:c.2771_2793dup NP_001180437.1:p.Glu932LysfsTer3
NM_001363453.1:c.2771_2793dup NP_001350382.1:p.Glu932LysfsTer3
NM_001363453.2:c.2771_2793dup NP_001350382.1:p.Glu932LysfsTer3
NM_005612.4:c.2771_2793dup NP_005603.3:p.Glu932LysfsTer3
ENST00000309042.11:c.2771_2793dup ENSP00000311816.7:p.Glu932LysfsTer3
ENST00000514063.2:c.*1798_*1820dup ENSP00000501649.1:n.*1798_*1820dup
ENST00000611211.2:c.*79-439_*79-417dup ENSP00000479151.2:n.*79-439_*79-417dup
ENST00000616975.5:c.*1798_*1820dup ENSP00000484058.1:n.*1798_*1820dup
ENST00000619101.4:c.2771_2793dup ENSP00000484836.1:p.Glu932LysfsTer3
ENST00000619101.5:c.*1798_*1820dup ENSP00000484836.2:n.*1798_*1820dup
ENST00000622863.4:c.587-165_587-143dup ENSP00000481650.1:n.587-165_587-143dup
ENST00000638187.2:c.2687_2709dup ENSP00000492006.2:p.Glu904LysfsTer3
ENST00000640168.2:c.898+20093_898+20115dup ENSP00000490969.1:n.898+20093_898+20115dup
ENST00000640343.2:c.982+11759_982+11781dup ENSP00000492813.1:n.982+11759_982+11781dup
ENST00000675105.1:c.2771_2793dup ENSP00000502313.1:p.Glu932LysfsTer3
ENST00000675341.1:c.2324_2346dup ENSP00000502488.1:p.Glu783LysfsTer3
XM_005265760.2:c.1805_1827dup XP_005265817.1:p.Glu610LysfsTer3
XM_011534401.1:c.2771_2793dup XP_011532703.1:p.Glu932LysfsTer3
XM_011534402.1:c.1793_1815dup XP_011532704.1:p.Glu606LysfsTer3
XM_017008527.1:c.2687_2709dup XP_016864016.1:p.Glu904LysfsTer3