Canonical Allele Identifier: CA2209082695
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947757_13947758delinsGA , CM000678.2:g.13947757_13947758delinsGA GRCh38
NC_000016.9:g.14041614_14041615delinsGA , CM000678.1:g.14041614_14041615delinsGA GRCh37
NC_000016.8:g.13949115_13949116delinsGA NCBI36
NG_011442.1:g.32601_32602delinsGA , LRG_463:g.32601_32602delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2299_2300delinsGA ENSP00000507912.1:p.Glu767=
ENST00000683962.1:c.*1855_*1856delinsGA ENSP00000506854.1:n.*1855_*1856delinsGA
ENST00000311895.8:c.2161_2162delinsGA MANE Select ENSP00000310520.7:p.Glu721=
ENST00000311895.7:c.2161_2162delinsGA ENSP00000310520.7:p.Glu721=
ENST00000389138.7:n.1438_1439delinsGA
ENST00000462862.1:c.474_475delinsGA ENSP00000461322.1:n.474_475delinsGA
NM_005236.2:c.2161_2162delinsGA , LRG_463t1:c.2161_2162delinsGA NP_005227.1:p.Glu721=
XM_011522424.1:c.2299_2300delinsGA XP_011520726.1:p.Glu767=
XM_011522425.1:c.1618_1619delinsGA XP_011520727.1:p.Glu540=
XM_011522426.1:c.1372_1373delinsGA XP_011520728.1:p.Glu458=
XM_011522427.1:c.811_812delinsGA XP_011520729.1:p.Glu271=
XR_932805.1:n.2320_2321delinsGA
XM_011522424.3:c.2299_2300delinsGA XP_011520726.1:p.Glu767=
XM_017023043.2:c.1372_1373delinsGA XP_016878532.1:p.Glu458=
NM_005236.3:c.2161_2162delinsGA MANE Select NP_005227.1:p.Glu721=