Canonical Allele Identifier: CA3265657886
Community Standard Title: NM_005236.3(ERCC4):c.2226_2292del (p.Tyr742Ter)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947822_13947888del , CM000678.2:g.13947822_13947888del GRCh38
NC_000016.9:g.14041679_14041745del , CM000678.1:g.14041679_14041745del GRCh37
NC_000016.8:g.13949180_13949246del NCBI36
NG_011442.1:g.32666_32732del , LRG_463:g.32666_32732del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2226_2292del MANE Select NP_005227.1:p.Tyr742Ter
ENST00000311895.8:c.2226_2292del MANE Select ENSP00000310520.7:p.Tyr742Ter
NM_005236.2:c.2226_2292del , LRG_463t1:c.2226_2292del NP_005227.1:p.Tyr742Ter
ENST00000311895.7:c.2226_2292del ENSP00000310520.7:p.Tyr742Ter
ENST00000389138.7:n.1503_1569del
ENST00000462862.1:c.539_605del ENSP00000461322.1:n.539_605del
ENST00000682617.1:c.2364_2430del ENSP00000507912.1:p.Tyr788Ter
ENST00000683962.1:c.*1920_*1986del ENSP00000506854.1:n.*1920_*1986del
XM_011522424.1:c.2364_2430del XP_011520726.1:p.Tyr788Ter
XM_011522424.3:c.2364_2430del XP_011520726.1:p.Tyr788Ter
XM_011522425.1:c.1683_1749del XP_011520727.1:p.Tyr561Ter
XM_011522426.1:c.1437_1503del XP_011520728.1:p.Tyr479Ter
XM_011522427.1:c.876_942del XP_011520729.1:p.Tyr292Ter
XM_017023043.2:c.1437_1503del XP_016878532.1:p.Tyr479Ter
XR_932805.1:n.2385_2451del