Canonical Allele Identifier: CA2631831393
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948033_13948036del , CM000678.2:g.13948033_13948036del GRCh38
NC_000016.9:g.14041890_14041893del , CM000678.1:g.14041890_14041893del GRCh37
NC_000016.8:g.13949391_13949394del NCBI36
NG_011442.1:g.32877_32880del , LRG_463:g.32877_32880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2575_2578del ENSP00000507912.1:p.Phe859ArgfsTer3
ENST00000683962.1:c.*2131_*2134del ENSP00000506854.1:n.*2131_*2134del
ENST00000311895.8:c.2437_2440del MANE Select ENSP00000310520.7:p.Phe813ArgfsTer3
ENST00000311895.7:c.2437_2440del ENSP00000310520.7:p.Phe813ArgfsTer3
ENST00000389138.7:n.1714_1717del
NM_005236.2:c.2437_2440del , LRG_463t1:c.2437_2440del NP_005227.1:p.Phe813ArgfsTer3
XM_011522424.1:c.2575_2578del XP_011520726.1:p.Phe859ArgfsTer3
XM_011522425.1:c.1894_1897del XP_011520727.1:p.Phe632ArgfsTer3
XM_011522426.1:c.1648_1651del XP_011520728.1:p.Phe550ArgfsTer3
XM_011522427.1:c.1087_1090del XP_011520729.1:p.Phe363ArgfsTer3
XR_932805.1:n.2596_2599del
XM_011522424.3:c.2575_2578del XP_011520726.1:p.Phe859ArgfsTer3
XM_017023043.2:c.1648_1651del XP_016878532.1:p.Phe550ArgfsTer3
NM_005236.3:c.2437_2440del MANE Select NP_005227.1:p.Phe813ArgfsTer3