Canonical Allele Identifier: CA3265657885
Community Standard Title: NM_005236.3(ERCC4):c.2107_2232del (p.Gly703_Gln744del)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947703_13947828del , CM000678.2:g.13947703_13947828del GRCh38
NC_000016.9:g.14041560_14041685del , CM000678.1:g.14041560_14041685del GRCh37
NC_000016.8:g.13949061_13949186del NCBI36
NG_011442.1:g.32547_32672del , LRG_463:g.32547_32672del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2107_2232del MANE Select NP_005227.1:p.Gly703_Gln744del
ENST00000311895.8:c.2107_2232del MANE Select ENSP00000310520.7:p.Gly703_Gln744del
NM_005236.2:c.2107_2232del , LRG_463t1:c.2107_2232del NP_005227.1:p.Gly703_Gln744del
ENST00000311895.7:c.2107_2232del ENSP00000310520.7:p.Gly703_Gln744del
ENST00000389138.7:n.1384_1509del
ENST00000462862.1:c.420_545del ENSP00000461322.1:n.420_545del
ENST00000682617.1:c.2245_2370del ENSP00000507912.1:p.Gly749_Gln790del
ENST00000683962.1:c.*1801_*1926del ENSP00000506854.1:n.*1801_*1926del
XM_011522424.1:c.2245_2370del XP_011520726.1:p.Gly749_Gln790del
XM_011522424.3:c.2245_2370del XP_011520726.1:p.Gly749_Gln790del
XM_011522425.1:c.1564_1689del XP_011520727.1:p.Gly522_Gln563del
XM_011522426.1:c.1318_1443del XP_011520728.1:p.Gly440_Gln481del
XM_011522427.1:c.757_882del XP_011520729.1:p.Gly253_Gln294del
XM_017023043.2:c.1318_1443del XP_016878532.1:p.Gly440_Gln481del
XR_932805.1:n.2266_2391del