Canonical Allele Identifier: CA2674491738
Gene: XRCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83353186_83353187del , CM000667.2:g.83353186_83353187del GRCh38
NC_000005.9:g.82649005_82649006del , CM000667.1:g.82649005_82649006del GRCh37
NC_000005.8:g.82684761_82684762del NCBI36
NG_047086.1:g.280778_280779del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396027.9:c.949_950del MANE Select ENSP00000379344.4:p.Met317ValfsTer15
ENST00000282268.7:c.949_950del ENSP00000282268.3:p.Met317ValfsTer15
ENST00000338635.10:c.955_956del ENSP00000342011.6:p.Met319ValfsTer15
ENST00000396027.8:c.949_950del ENSP00000379344.4:p.Met317ValfsTer15
ENST00000511817.1:c.955_956del ENSP00000421491.1:p.Met319ValfsTer15
NM_003401.3:c.949_950del NP_003392.1:p.Met317ValfsTer15
NM_022406.2:c.955_956del NP_071801.1:p.Met319ValfsTer15
NM_022550.2:c.949_950del NP_072044.1:p.Met317ValfsTer15
XM_005248595.1:c.955_956del XP_005248652.1:p.Met319ValfsTer15
XM_011543626.1:c.955_956del XP_011541928.1:p.Met319ValfsTer15
XM_011543629.1:c.295_296del XP_011541931.1:p.Met99ValfsTer15
NM_001318012.1:c.955_956del NP_001304941.1:p.Met319ValfsTer15
NM_003401.4:c.949_950del NP_003392.1:p.Met317ValfsTer15
NM_022406.3:c.955_956del NP_071801.1:p.Met319ValfsTer15
NM_022550.3:c.949_950del NP_072044.1:p.Met317ValfsTer15
XM_017009827.2:c.894-17081_894-17080del XP_016865316.1:n.894-17081_894-17080del
NM_001318012.2:c.955_956del NP_001304941.1:p.Met319ValfsTer15
NM_003401.5:c.949_950del MANE Select NP_003392.1:p.Met317ValfsTer15
NM_022406.4:c.955_956del NP_071801.1:p.Met319ValfsTer15
NM_001318012.3:c.955_956del NP_001304941.1:p.Met319ValfsTer15
NM_022406.5:c.955_956del NP_071801.1:p.Met319ValfsTer15
NM_022550.4:c.949_950del NP_072044.1:p.Met317ValfsTer15