Canonical Allele Identifier: CA1151337133
Gene: CHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112169_6112175delinsATGAACT , CM000663.2:g.6112169_6112175delinsATGAACT GRCh38
NC_000001.10:g.6172229_6172235delinsATGAACT , CM000663.1:g.6172229_6172235delinsATGAACT GRCh37
NC_000001.9:g.6094816_6094822delinsATGAACT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5105_5111delinsAGTTCAT MANE Select ENSP00000262450.3:p.Lys1702=
ENST00000262450.7:c.5105_5111delinsAGTTCAT ENSP00000262450.3:p.Lys1702=
ENST00000377999.5:c.2008_2014delinsAGTTCAT ENSP00000367238.2:n.2008_2014delinsAGTTCA...
ENST00000462991.5:c.3358_3364delinsAGTTCAT
ENST00000496404.1:c.3823_3829delinsAGTTCAT ENSP00000433676.1:n.3823_3829delinsAGTTCA...
NM_015557.2:c.5105_5111delinsAGTTCAT NP_056372.1:p.Lys1702=
NM_015557.3:c.5105_5111delinsAGTTCAT MANE Select NP_056372.1:p.Lys1702=