Canonical Allele Identifier: CA3265657891
Community Standard Title: NM_005236.3(ERCC4):c.2282_2405del (p.Phe761CysfsTer15)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947878_13948001del , CM000678.2:g.13947878_13948001del GRCh38
NC_000016.9:g.14041735_14041858del , CM000678.1:g.14041735_14041858del GRCh37
NC_000016.8:g.13949236_13949359del NCBI36
NG_011442.1:g.32722_32845del , LRG_463:g.32722_32845del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2282_2405del MANE Select NP_005227.1:p.Phe761CysfsTer15
ENST00000311895.8:c.2282_2405del MANE Select ENSP00000310520.7:p.Phe761CysfsTer15
NM_005236.2:c.2282_2405del , LRG_463t1:c.2282_2405del NP_005227.1:p.Phe761CysfsTer15
ENST00000311895.7:c.2282_2405del ENSP00000310520.7:p.Phe761CysfsTer15
ENST00000389138.7:n.1559_1682del
ENST00000462862.1:c.595_718del ENSP00000461322.1:n.595_718del
ENST00000682617.1:c.2420_2543del ENSP00000507912.1:p.Phe807CysfsTer15
ENST00000683962.1:c.*1976_*2099del ENSP00000506854.1:n.*1976_*2099del
XM_011522424.1:c.2420_2543del XP_011520726.1:p.Phe807CysfsTer15
XM_011522424.3:c.2420_2543del XP_011520726.1:p.Phe807CysfsTer15
XM_011522425.1:c.1739_1862del XP_011520727.1:p.Phe580CysfsTer15
XM_011522426.1:c.1493_1616del XP_011520728.1:p.Phe498CysfsTer15
XM_011522427.1:c.932_1055del XP_011520729.1:p.Phe311CysfsTer15
XM_017023043.2:c.1493_1616del XP_016878532.1:p.Phe498CysfsTer15
XR_932805.1:n.2441_2564del