Canonical Allele Identifier: CA3265657883
Community Standard Title: NM_005236.3(ERCC4):c.2064_2122del (p.Met688IlefsTer24)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947660_13947718del , CM000678.2:g.13947660_13947718del GRCh38
NC_000016.9:g.14041517_14041575del , CM000678.1:g.14041517_14041575del GRCh37
NC_000016.8:g.13949018_13949076del NCBI36
NG_011442.1:g.32504_32562del , LRG_463:g.32504_32562del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2064_2122del MANE Select NP_005227.1:p.Met688IlefsTer24
ENST00000311895.8:c.2064_2122del MANE Select ENSP00000310520.7:p.Met688IlefsTer24
NM_005236.2:c.2064_2122del , LRG_463t1:c.2064_2122del NP_005227.1:p.Met688IlefsTer24
ENST00000311895.7:c.2064_2122del ENSP00000310520.7:p.Met688IlefsTer24
ENST00000389138.7:n.1341_1399del
ENST00000462862.1:c.377_435del ENSP00000461322.1:n.377_435del
ENST00000682617.1:c.2202_2260del ENSP00000507912.1:p.Met734IlefsTer24
ENST00000683962.1:c.*1758_*1816del ENSP00000506854.1:n.*1758_*1816del
XM_011522424.1:c.2202_2260del XP_011520726.1:p.Met734IlefsTer24
XM_011522424.3:c.2202_2260del XP_011520726.1:p.Met734IlefsTer24
XM_011522425.1:c.1521_1579del XP_011520727.1:p.Met507IlefsTer24
XM_011522426.1:c.1275_1333del XP_011520728.1:p.Met425IlefsTer24
XM_011522427.1:c.714_772del XP_011520729.1:p.Met238IlefsTer24
XM_017023043.2:c.1275_1333del XP_016878532.1:p.Met425IlefsTer24
XR_932805.1:n.2223_2281del