Canonical Allele Identifier: CA2631831380
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947902_13947903del , CM000678.2:g.13947902_13947903del GRCh38
NC_000016.9:g.14041759_14041760del , CM000678.1:g.14041759_14041760del GRCh37
NC_000016.8:g.13949260_13949261del NCBI36
NG_011442.1:g.32746_32747del , LRG_463:g.32746_32747del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2444_2445del ENSP00000507912.1:p.Leu815HisfsTer14
ENST00000683962.1:c.*2000_*2001del ENSP00000506854.1:n.*2000_*2001del
ENST00000311895.8:c.2306_2307del MANE Select ENSP00000310520.7:p.Leu769HisfsTer14
ENST00000311895.7:c.2306_2307del ENSP00000310520.7:p.Leu769HisfsTer14
ENST00000389138.7:n.1583_1584del
ENST00000462862.1:c.619_620del ENSP00000461322.1:n.619_620del
NM_005236.2:c.2306_2307del , LRG_463t1:c.2306_2307del NP_005227.1:p.Leu769HisfsTer14
XM_011522424.1:c.2444_2445del XP_011520726.1:p.Leu815HisfsTer14
XM_011522425.1:c.1763_1764del XP_011520727.1:p.Leu588HisfsTer14
XM_011522426.1:c.1517_1518del XP_011520728.1:p.Leu506HisfsTer14
XM_011522427.1:c.956_957del XP_011520729.1:p.Leu319HisfsTer14
XR_932805.1:n.2465_2466del
XM_011522424.3:c.2444_2445del XP_011520726.1:p.Leu815HisfsTer14
XM_017023043.2:c.1517_1518del XP_016878532.1:p.Leu506HisfsTer14
NM_005236.3:c.2306_2307del MANE Select NP_005227.1:p.Leu769HisfsTer14