Canonical Allele Identifier: CA2209081450
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944828_13944829delinsGA , CM000678.2:g.13944828_13944829delinsGA GRCh38
NC_000016.9:g.14038685_14038686delinsGA , CM000678.1:g.14038685_14038686delinsGA GRCh37
NC_000016.8:g.13946186_13946187delinsGA NCBI36
NG_011442.1:g.29672_29673delinsGA , LRG_463:g.29672_29673delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2148_2149delinsGA ENSP00000507912.1:p.Arg716=
ENST00000683962.1:c.*1704_*1705delinsGA ENSP00000506854.1:n.*1704_*1705delinsGA
ENST00000311895.8:c.2010_2011delinsGA MANE Select ENSP00000310520.7:p.Arg670=
ENST00000311895.7:c.2010_2011delinsGA ENSP00000310520.7:p.Arg670=
ENST00000389138.7:n.1287_1288delinsGA
ENST00000462862.1:c.323_324delinsGA ENSP00000461322.1:n.323_324delinsGA
NM_005236.2:c.2010_2011delinsGA , LRG_463t1:c.2010_2011delinsGA NP_005227.1:p.Arg670=
XM_011522424.1:c.2148_2149delinsGA XP_011520726.1:p.Arg716=
XM_011522425.1:c.1467_1468delinsGA XP_011520727.1:p.Arg489=
XM_011522426.1:c.1221_1222delinsGA XP_011520728.1:p.Arg407=
XM_011522427.1:c.660_661delinsGA XP_011520729.1:p.Arg220=
XR_932805.1:n.2169_2170delinsGA
XM_011522424.3:c.2148_2149delinsGA XP_011520726.1:p.Arg716=
XM_017023043.2:c.1221_1222delinsGA XP_016878532.1:p.Arg407=
NM_005236.3:c.2010_2011delinsGA MANE Select NP_005227.1:p.Arg670=