Canonical Allele Identifier: CA1151337193
Gene: CHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112302_6112306delinsTCATC , CM000663.2:g.6112302_6112306delinsTCATC GRCh38
NC_000001.10:g.6172362_6172366delinsTCATC , CM000663.1:g.6172362_6172366delinsTCATC GRCh37
NC_000001.9:g.6094949_6094953delinsTCATC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5003-29_5003-25delinsGATGA MANE Select ENSP00000262450.3:n.5003-29_5003-25delinsGATGA
ENST00000262450.7:c.5003-29_5003-25delinsGATGA ENSP00000262450.3:n.5003-29_5003-25delinsGATGA
ENST00000377999.5:c.1906-29_1906-25delinsGATGA ENSP00000367238.2:n.1906-29_1906-25delinsGATGA
ENST00000462991.5:c.3256-29_3256-25delinsGATGA
ENST00000496404.1:c.3721-29_3721-25delinsGATGA ENSP00000433676.1:n.3721-29_3721-25delinsGATGA
NM_015557.2:c.5003-29_5003-25delinsGATGA NP_056372.1:n.5003-29_5003-25delinsGATGA
NM_015557.3:c.5003-29_5003-25delinsGATGA MANE Select NP_056372.1:n.5003-29_5003-25delinsGATGA