Canonical Allele Identifier: CA2209082733
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947831_13947832delinsCA , CM000678.2:g.13947831_13947832delinsCA GRCh38
NC_000016.9:g.14041688_14041689delinsCA , CM000678.1:g.14041688_14041689delinsCA GRCh37
NC_000016.8:g.13949189_13949190delinsCA NCBI36
NG_011442.1:g.32675_32676delinsCA , LRG_463:g.32675_32676delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2373_2374delinsCA ENSP00000507912.1:p.Cys791=
ENST00000683962.1:c.*1929_*1930delinsCA ENSP00000506854.1:n.*1929_*1930delinsCA
ENST00000311895.8:c.2235_2236delinsCA MANE Select ENSP00000310520.7:p.Cys745=
ENST00000311895.7:c.2235_2236delinsCA ENSP00000310520.7:p.Cys745=
ENST00000389138.7:n.1512_1513delinsCA
ENST00000462862.1:c.548_549delinsCA ENSP00000461322.1:n.548_549delinsCA
NM_005236.2:c.2235_2236delinsCA , LRG_463t1:c.2235_2236delinsCA NP_005227.1:p.Cys745=
XM_011522424.1:c.2373_2374delinsCA XP_011520726.1:p.Cys791=
XM_011522425.1:c.1692_1693delinsCA XP_011520727.1:p.Cys564=
XM_011522426.1:c.1446_1447delinsCA XP_011520728.1:p.Cys482=
XM_011522427.1:c.885_886delinsCA XP_011520729.1:p.Cys295=
XR_932805.1:n.2394_2395delinsCA
XM_011522424.3:c.2373_2374delinsCA XP_011520726.1:p.Cys791=
XM_017023043.2:c.1446_1447delinsCA XP_016878532.1:p.Cys482=
NM_005236.3:c.2235_2236delinsCA MANE Select NP_005227.1:p.Cys745=