Canonical Allele Identifier: CA2695222826
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947765del , CM000678.2:g.13947765del GRCh38
NC_000016.9:g.14041622del , CM000678.1:g.14041622del GRCh37
NC_000016.8:g.13949123del NCBI36
NG_011442.1:g.32609del , LRG_463:g.32609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2307del ENSP00000507912.1:p.Cys769TrpfsTer10
ENST00000683962.1:c.*1863del ENSP00000506854.1:n.*1863del
ENST00000311895.8:c.2169del MANE Select ENSP00000310520.7:p.Cys723TrpfsTer10
ENST00000311895.7:c.2169del ENSP00000310520.7:p.Cys723TrpfsTer10
ENST00000389138.7:n.1446del
ENST00000462862.1:c.482del ENSP00000461322.1:n.482del
NM_005236.2:c.2169del , LRG_463t1:c.2169del NP_005227.1:p.Cys723TrpfsTer10
XM_011522424.1:c.2307del XP_011520726.1:p.Cys769TrpfsTer10
XM_011522425.1:c.1626del XP_011520727.1:p.Cys542TrpfsTer10
XM_011522426.1:c.1380del XP_011520728.1:p.Cys460TrpfsTer10
XM_011522427.1:c.819del XP_011520729.1:p.Cys273TrpfsTer10
XR_932805.1:n.2328del
XM_011522424.3:c.2307del XP_011520726.1:p.Cys769TrpfsTer10
XM_017023043.2:c.1380del XP_016878532.1:p.Cys460TrpfsTer10
NM_005236.3:c.2169del MANE Select NP_005227.1:p.Cys723TrpfsTer10