Canonical Allele Identifier: CA3054214810
Gene: ERCC4 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947832_13947839delinsTGTACA , CM000678.2:g.13947832_13947839delinsTGTACA GRCh38
NC_000016.9:g.14041689_14041696delinsTGTACA , CM000678.1:g.14041689_14041696delinsTGTACA GRCh37
NC_000016.8:g.13949190_13949197delinsTGTACA NCBI36
NG_011442.1:g.32676_32683delinsTGTACA , LRG_463:g.32676_32683delinsTGTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2374_2381delinsTGTACA ENSP00000507912.1:p.Ile792CysfsTer14
ENST00000683962.1:c.*1930_*1937delinsTGTACA ENSP00000506854.1:n.*1930_*1937delinsTGTACA
ENST00000311895.8:c.2236_2243delinsTGTACA MANE Select ENSP00000310520.7:p.Ile746CysfsTer14
ENST00000311895.7:c.2236_2243delinsTGTACA ENSP00000310520.7:p.Ile746CysfsTer14
ENST00000389138.7:n.1513_1520delinsTGTACA
ENST00000462862.1:c.549_556delinsTGTACA ENSP00000461322.1:n.549_556delinsTGTACA
NM_005236.2:c.2236_2243delinsTGTACA , LRG_463t1:c.2236_2243delinsTGTACA NP_005227.1:p.Ile746CysfsTer14
XM_011522424.1:c.2374_2381delinsTGTACA XP_011520726.1:p.Ile792CysfsTer14
XM_011522425.1:c.1693_1700delinsTGTACA XP_011520727.1:p.Ile565CysfsTer14
XM_011522426.1:c.1447_1454delinsTGTACA XP_011520728.1:p.Ile483CysfsTer14
XM_011522427.1:c.886_893delinsTGTACA XP_011520729.1:p.Ile296CysfsTer14
XR_932805.1:n.2395_2402delinsTGTACA
XM_011522424.3:c.2374_2381delinsTGTACA XP_011520726.1:p.Ile792CysfsTer14
XM_017023043.2:c.1447_1454delinsTGTACA XP_016878532.1:p.Ile483CysfsTer14
NM_005236.3:c.2236_2243delinsTGTACA MANE Select NP_005227.1:p.Ile746CysfsTer14