Canonical Allele Identifier: CA3265657894
Community Standard Title: NM_005236.3(ERCC4):c.2305_2377del (p.Leu769PhefsTer24)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947901_13947973del , CM000678.2:g.13947901_13947973del GRCh38
NC_000016.9:g.14041758_14041830del , CM000678.1:g.14041758_14041830del GRCh37
NC_000016.8:g.13949259_13949331del NCBI36
NG_011442.1:g.32745_32817del , LRG_463:g.32745_32817del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2305_2377del MANE Select NP_005227.1:p.Leu769PhefsTer24
ENST00000311895.8:c.2305_2377del MANE Select ENSP00000310520.7:p.Leu769PhefsTer24
NM_005236.2:c.2305_2377del , LRG_463t1:c.2305_2377del NP_005227.1:p.Leu769PhefsTer24
ENST00000311895.7:c.2305_2377del ENSP00000310520.7:p.Leu769PhefsTer24
ENST00000389138.7:n.1582_1654del
ENST00000462862.1:c.618_690del ENSP00000461322.1:n.618_690del
ENST00000682617.1:c.2443_2515del ENSP00000507912.1:p.Leu815PhefsTer24
ENST00000683962.1:c.*1999_*2071del ENSP00000506854.1:n.*1999_*2071del
XM_011522424.1:c.2443_2515del XP_011520726.1:p.Leu815PhefsTer24
XM_011522424.3:c.2443_2515del XP_011520726.1:p.Leu815PhefsTer24
XM_011522425.1:c.1762_1834del XP_011520727.1:p.Leu588PhefsTer24
XM_011522426.1:c.1516_1588del XP_011520728.1:p.Leu506PhefsTer24
XM_011522427.1:c.955_1027del XP_011520729.1:p.Leu319PhefsTer24
XM_017023043.2:c.1516_1588del XP_016878532.1:p.Leu506PhefsTer24
XR_932805.1:n.2464_2536del