Canonical Allele Identifier: CA2642926916

Gene: CHD5

Linked Data

• gnomAD v4: 1-6112297-T-TTCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112300_6112301insCTCA , CM000663.2:g.6112300_6112301insCTCA	GRCh38
NC_000001.10:g.6172360_6172361insCTCA , CM000663.1:g.6172360_6172361insCTCA	GRCh37
NC_000001.9:g.6094947_6094948insCTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262450.8:c.5003-21_5003-20insGTGA MANE Select	ENSP00000262450.3:n.5003-21_5003-20insGTGA
ENST00000262450.7:c.5003-21_5003-20insGTGA	ENSP00000262450.3:n.5003-21_5003-20insGTGA
ENST00000377999.5:c.1906-21_1906-20insGTGA	ENSP00000367238.2:n.1906-21_1906-20insGTGA
ENST00000462991.5:c.3256-21_3256-20insGTGA
ENST00000496404.1:c.3721-21_3721-20insGTGA	ENSP00000433676.1:n.3721-21_3721-20insGTGA
NM_015557.2:c.5003-21_5003-20insGTGA	NP_056372.1:n.5003-21_5003-20insGTGA
NM_015557.3:c.5003-21_5003-20insGTGA MANE Select	NP_056372.1:n.5003-21_5003-20insGTGA