Canonical Allele Identifier: CA2540553450
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948634_13948640del , CM000678.2:g.13948634_13948640del GRCh38
NC_000016.9:g.14042491_14042497del , CM000678.1:g.14042491_14042497del GRCh37
NC_000016.8:g.13949992_13949998del NCBI36
NG_011442.1:g.33478_33484del , LRG_463:g.33478_33484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*287_*293del ENSP00000507912.1:n.*287_*293del
ENST00000683962.1:c.*2732_*2738del ENSP00000506854.1:n.*2732_*2738del
ENST00000311895.8:c.*287_*293del MANE Select ENSP00000310520.7:n.*287_*293del
ENST00000311895.7:c.*287_*293del ENSP00000310520.7:n.*287_*293del
NM_005236.2:c.*287_*293del , LRG_463t1:c.*287_*293del NP_005227.1:n.*287_*293del
XM_011522424.1:c.*287_*293del XP_011520726.1:n.*287_*293del
XM_011522425.1:c.*287_*293del XP_011520727.1:n.*287_*293del
XM_011522426.1:c.*287_*293del XP_011520728.1:n.*287_*293del
XM_011522427.1:c.*287_*293del XP_011520729.1:n.*287_*293del
XR_932805.1:n.3074-79_3074-73del
XM_011522424.3:c.*287_*293del XP_011520726.1:n.*287_*293del
XM_017023043.2:c.*287_*293del XP_016878532.1:n.*287_*293del
NM_005236.3:c.*287_*293del MANE Select NP_005227.1:n.*287_*293del