Canonical Allele Identifier: CA2742311985

Gene: CHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112185_6112186del , CM000663.2:g.6112185_6112186del	GRCh38
NC_000001.10:g.6172245_6172246del , CM000663.1:g.6172245_6172246del	GRCh37
NC_000001.9:g.6094832_6094833del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262450.8:c.5096_5097del MANE Select	ENSP00000262450.3:p.Gly1699GlufsTer?
ENST00000262450.7:c.5096_5097del	ENSP00000262450.3:p.Gly1699GlufsTer?
ENST00000377999.5:c.1999_2000del	ENSP00000367238.2:n.1999_2000del
ENST00000462991.5:c.3349_3350del
ENST00000496404.1:c.3814_3815del	ENSP00000433676.1:n.3814_3815del
NM_015557.2:c.5096_5097del	NP_056372.1:p.Gly1699GlufsTer?
NM_015557.3:c.5096_5097del MANE Select	NP_056372.1:p.Gly1699GlufsTer?