Canonical Allele Identifier: CA2574189955
Gene: CHD5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112224dup , CM000663.2:g.6112224dup GRCh38
NC_000001.10:g.6172284dup , CM000663.1:g.6172284dup GRCh37
NC_000001.9:g.6094871dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5058dup MANE Select ENSP00000262450.3:p.Glu1687ArgfsTer4
ENST00000262450.7:c.5058dup ENSP00000262450.3:p.Glu1687ArgfsTer4
ENST00000377999.5:c.1961dup ENSP00000367238.2:n.1961dup
ENST00000462991.5:c.3311dup
ENST00000496404.1:c.3776dup ENSP00000433676.1:n.3776dup
NM_015557.2:c.5058dup NP_056372.1:p.Glu1687ArgfsTer4
NM_015557.3:c.5058dup MANE Select NP_056372.1:p.Glu1687ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'