Canonical Allele Identifier: CA143932
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935416_13935420del , CM000678.2:g.13935416_13935420del GRCh38
NC_000016.9:g.14029273_14029277del , CM000678.1:g.14029273_14029277del GRCh37
NC_000016.8:g.13936774_13936778del NCBI36
NG_011442.1:g.20260_20264del , LRG_463:g.20260_20264del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.1484_1488del MANE Select NP_005227.1:p.Thr495AsnfsTer6
ENST00000311895.8:c.1484_1488del MANE Select ENSP00000310520.7:p.Thr495AsnfsTer6
NM_005236.2:c.1484_1488del , LRG_463t1:c.1484_1488del NP_005227.1:p.Thr495AsnfsTer6
ENST00000311895.7:c.1484_1488del ENSP00000310520.7:p.Thr495AsnfsTer6
ENST00000389138.7:n.761_765del
ENST00000682568.1:n.1562_1566del
ENST00000682617.1:c.1622_1626del ENSP00000507912.1:p.Thr541AsnfsTer6
ENST00000682826.1:c.*798_*802del ENSP00000507274.1:n.*798_*802del
ENST00000682909.1:n.3524_3528del
ENST00000683277.1:n.3129_3133del
ENST00000683407.1:n.1492_1496del
ENST00000683962.1:c.*1178_*1182del ENSP00000506854.1:n.*1178_*1182del
XM_011522424.1:c.1622_1626del XP_011520726.1:p.Thr541AsnfsTer6
XM_011522424.3:c.1622_1626del XP_011520726.1:p.Thr541AsnfsTer6
XM_011522425.1:c.941_945del XP_011520727.1:p.Thr314AsnfsTer6
XM_011522426.1:c.695_699del XP_011520728.1:p.Thr232AsnfsTer6
XM_011522427.1:c.134_138del XP_011520729.1:p.Thr45AsnfsTer6
XM_017023043.2:c.695_699del XP_016878532.1:p.Thr232AsnfsTer6
XR_932805.1:n.1643_1647del