Canonical Allele Identifier: CA2209083099
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948590_13948591delinsTA , CM000678.2:g.13948590_13948591delinsTA GRCh38
NC_000016.9:g.14042447_14042448delinsTA , CM000678.1:g.14042447_14042448delinsTA GRCh37
NC_000016.8:g.13949948_13949949delinsTA NCBI36
NG_011442.1:g.33434_33435delinsTA , LRG_463:g.33434_33435delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*243_*244delinsTA ENSP00000507912.1:n.*243_*244delinsTA
ENST00000683962.1:c.*2688_*2689delinsTA ENSP00000506854.1:n.*2688_*2689delinsTA
ENST00000311895.8:c.*243_*244delinsTA MANE Select ENSP00000310520.7:n.*243_*244delinsTA
ENST00000311895.7:c.*243_*244delinsTA ENSP00000310520.7:n.*243_*244delinsTA
NM_005236.2:c.*243_*244delinsTA , LRG_463t1:c.*243_*244delinsTA NP_005227.1:n.*243_*244delinsTA
XM_011522424.1:c.*243_*244delinsTA XP_011520726.1:n.*243_*244delinsTA
XM_011522425.1:c.*243_*244delinsTA XP_011520727.1:n.*243_*244delinsTA
XM_011522426.1:c.*243_*244delinsTA XP_011520728.1:n.*243_*244delinsTA
XM_011522427.1:c.*243_*244delinsTA XP_011520729.1:n.*243_*244delinsTA
XR_932805.1:n.3073+80_3073+81delinsTA
XM_011522424.3:c.*243_*244delinsTA XP_011520726.1:n.*243_*244delinsTA
XM_017023043.2:c.*243_*244delinsTA XP_016878532.1:n.*243_*244delinsTA
NM_005236.3:c.*243_*244delinsTA MANE Select NP_005227.1:n.*243_*244delinsTA