Canonical Allele Identifier: CA521017373

Gene: CHD5

Linked Data

• dbSNP Id: rs1557536879
• gnomAD v2: 1-6172229-ATGAACT-A
• gnomAD v4: 1-6112169-ATGAACT-A
• MyVariant Identifiers: chr1:g.6172230_6172235del (hg19) ; chr1:g.6112170_6112175del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112174_6112179del , CM000663.2:g.6112174_6112179del	GRCh38
NC_000001.10:g.6172234_6172239del , CM000663.1:g.6172234_6172239del	GRCh37
NC_000001.9:g.6094821_6094826del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262450.8:c.5105_5110del MANE Select	ENSP00000262450.3:p.Lys1702_Phe1703del
ENST00000262450.7:c.5105_5110del	ENSP00000262450.3:p.Lys1702_Phe1703del
ENST00000377999.5:c.2008_2013del	ENSP00000367238.2:n.2008_2013del
ENST00000462991.5:c.3358_3363del
ENST00000496404.1:c.3823_3828del	ENSP00000433676.1:n.3823_3828del
NM_015557.2:c.5105_5110del	NP_056372.1:p.Lys1702_Phe1703del
NM_015557.3:c.5105_5110del MANE Select	NP_056372.1:p.Lys1702_Phe1703del