Canonical Allele Identifier: CA998164893
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs1666301563
gnomAD v3: 1-6112147-G-GC
gnomAD v4: 1-6112147-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112152dup , CM000663.2:g.6112152dup GRCh38
NC_000001.10:g.6172212dup , CM000663.1:g.6172212dup GRCh37
NC_000001.9:g.6094799dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5132dup MANE Select ENSP00000262450.3:p.Phe1712LeufsTer30
ENST00000262450.7:c.5132dup ENSP00000262450.3:p.Phe1712LeufsTer30
ENST00000377999.5:c.2035dup ENSP00000367238.2:n.2035dup
ENST00000462991.5:c.3385dup
ENST00000496404.1:c.3850dup ENSP00000433676.1:n.3850dup
NM_015557.2:c.5132dup NP_056372.1:p.Phe1712LeufsTer30
NM_015557.3:c.5132dup MANE Select NP_056372.1:p.Phe1712LeufsTer30
Search 100 bp 5'
Search 100 bp 3'