Canonical Allele Identifier: CA3332319
Gene: XRCC4 HGNC NCBI

Linked Data

dbSNP Id: rs781102697

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83353202_83353203del , CM000667.2:g.83353202_83353203del GRCh38
NC_000005.9:g.82649021_82649022del , CM000667.1:g.82649021_82649022del GRCh37
NC_000005.8:g.82684777_82684778del NCBI36
NG_047086.1:g.280794_280795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396027.9:c.965_966del MANE Select ENSP00000379344.4:p.Leu322GlnfsTer10
ENST00000282268.7:c.965_966del ENSP00000282268.3:p.Leu322GlnfsTer10
ENST00000338635.10:c.971_972del ENSP00000342011.6:p.Leu324GlnfsTer10
ENST00000396027.8:c.965_966del ENSP00000379344.4:p.Leu322GlnfsTer10
ENST00000511817.1:c.971_972del ENSP00000421491.1:p.Leu324GlnfsTer10
NM_003401.3:c.965_966del NP_003392.1:p.Leu322GlnfsTer10
NM_022406.2:c.971_972del NP_071801.1:p.Leu324GlnfsTer10
NM_022550.2:c.965_966del NP_072044.1:p.Leu322GlnfsTer10
XM_005248595.1:c.971_972del XP_005248652.1:p.Leu324GlnfsTer10
XM_011543626.1:c.971_972del XP_011541928.1:p.Leu324GlnfsTer10
XM_011543629.1:c.311_312del XP_011541931.1:p.Leu104GlnfsTer10
NM_001318012.1:c.971_972del NP_001304941.1:p.Leu324GlnfsTer10
NM_003401.4:c.965_966del NP_003392.1:p.Leu322GlnfsTer10
NM_022406.3:c.971_972del NP_071801.1:p.Leu324GlnfsTer10
NM_022550.3:c.965_966del NP_072044.1:p.Leu322GlnfsTer10
XM_017009827.2:c.894-17065_894-17064del XP_016865316.1:n.894-17065_894-17064del
NM_001318012.2:c.971_972del NP_001304941.1:p.Leu324GlnfsTer10
NM_003401.5:c.965_966del MANE Select NP_003392.1:p.Leu322GlnfsTer10
NM_022406.4:c.971_972del NP_071801.1:p.Leu324GlnfsTer10
NM_001318012.3:c.971_972del NP_001304941.1:p.Leu324GlnfsTer10
NM_022406.5:c.971_972del NP_071801.1:p.Leu324GlnfsTer10
NM_022550.4:c.965_966del NP_072044.1:p.Leu322GlnfsTer10