Canonical Allele Identifier: CA974915159
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032568686

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948420_13948422del , CM000678.2:g.13948420_13948422del GRCh38
NC_000016.9:g.14042277_14042279del , CM000678.1:g.14042277_14042279del GRCh37
NC_000016.8:g.13949778_13949780del NCBI36
NG_011442.1:g.33264_33266del , LRG_463:g.33264_33266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*73_*75del ENSP00000507912.1:n.*73_*75del
ENST00000683962.1:c.*2518_*2520del ENSP00000506854.1:n.*2518_*2520del
ENST00000311895.8:c.*73_*75del MANE Select ENSP00000310520.7:n.*73_*75del
ENST00000311895.7:c.*73_*75del ENSP00000310520.7:n.*73_*75del
ENST00000389138.7:n.2101_2103del
NM_005236.2:c.*73_*75del , LRG_463t1:c.*73_*75del NP_005227.1:n.*73_*75del
XM_011522424.1:c.*73_*75del XP_011520726.1:n.*73_*75del
XM_011522425.1:c.*73_*75del XP_011520727.1:n.*73_*75del
XM_011522426.1:c.*73_*75del XP_011520728.1:n.*73_*75del
XM_011522427.1:c.*73_*75del XP_011520729.1:n.*73_*75del
XR_932805.1:n.2983_2985del
XM_011522424.3:c.*73_*75del XP_011520726.1:n.*73_*75del
XM_017023043.2:c.*73_*75del XP_016878532.1:n.*73_*75del
NM_005236.3:c.*73_*75del MANE Select NP_005227.1:n.*73_*75del