Canonical Allele Identifier: CA2209082739
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947838_13947839delinsAT , CM000678.2:g.13947838_13947839delinsAT GRCh38
NC_000016.9:g.14041695_14041696delinsAT , CM000678.1:g.14041695_14041696delinsAT GRCh37
NC_000016.8:g.13949196_13949197delinsAT NCBI36
NG_011442.1:g.32682_32683delinsAT , LRG_463:g.32682_32683delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2380_2381delinsAT ENSP00000507912.1:p.Met794=
ENST00000683962.1:c.*1936_*1937delinsAT ENSP00000506854.1:n.*1936_*1937delinsAT
ENST00000311895.8:c.2242_2243delinsAT MANE Select ENSP00000310520.7:p.Met748=
ENST00000311895.7:c.2242_2243delinsAT ENSP00000310520.7:p.Met748=
ENST00000389138.7:n.1519_1520delinsAT
ENST00000462862.1:c.555_556delinsAT ENSP00000461322.1:n.555_556delinsAT
NM_005236.2:c.2242_2243delinsAT , LRG_463t1:c.2242_2243delinsAT NP_005227.1:p.Met748=
XM_011522424.1:c.2380_2381delinsAT XP_011520726.1:p.Met794=
XM_011522425.1:c.1699_1700delinsAT XP_011520727.1:p.Met567=
XM_011522426.1:c.1453_1454delinsAT XP_011520728.1:p.Met485=
XM_011522427.1:c.892_893delinsAT XP_011520729.1:p.Met298=
XR_932805.1:n.2401_2402delinsAT
XM_011522424.3:c.2380_2381delinsAT XP_011520726.1:p.Met794=
XM_017023043.2:c.1453_1454delinsAT XP_016878532.1:p.Met485=
NM_005236.3:c.2242_2243delinsAT MANE Select NP_005227.1:p.Met748=