Canonical Allele Identifier: CA2731959469
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141620532

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947936del , CM000678.2:g.13947936del GRCh38
NC_000016.9:g.14041793del , CM000678.1:g.14041793del GRCh37
NC_000016.8:g.13949294del NCBI36
NG_011442.1:g.32780del , LRG_463:g.32780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2478del ENSP00000507912.1:p.Ser827AlafsTer?
ENST00000683962.1:c.*2034del ENSP00000506854.1:n.*2034del
ENST00000311895.8:c.2340del MANE Select ENSP00000310520.7:p.Ser781AlafsTer?
ENST00000311895.7:c.2340del ENSP00000310520.7:p.Ser781AlafsTer?
ENST00000389138.7:n.1617del
ENST00000462862.1:c.653del ENSP00000461322.1:n.653del
NM_005236.2:c.2340del , LRG_463t1:c.2340del NP_005227.1:p.Ser781AlafsTer?
XM_011522424.1:c.2478del XP_011520726.1:p.Ser827AlafsTer?
XM_011522425.1:c.1797del XP_011520727.1:p.Ser600AlafsTer?
XM_011522426.1:c.1551del XP_011520728.1:p.Ser518AlafsTer?
XM_011522427.1:c.990del XP_011520729.1:p.Ser331AlafsTer?
XR_932805.1:n.2499del
XM_011522424.3:c.2478del XP_011520726.1:p.Ser827AlafsTer?
XM_017023043.2:c.1551del XP_016878532.1:p.Ser518AlafsTer?
NM_005236.3:c.2340del MANE Select NP_005227.1:p.Ser781AlafsTer?