Canonical Allele Identifier: CA2578353676

Gene: XRCC4

Linked Data

• gnomAD v4: 5-83353227-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83353229_83353230del , CM000667.2:g.83353229_83353230del	GRCh38
NC_000005.9:g.82649048_82649049del , CM000667.1:g.82649048_82649049del	GRCh37
NC_000005.8:g.82684804_82684805del	NCBI36
NG_047086.1:g.280821_280822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396027.9:c.992_993del MANE Select	ENSP00000379344.4:p.Phe331Ter
ENST00000282268.7:c.992_993del	ENSP00000282268.3:p.Phe331Ter
ENST00000338635.10:c.998_999del	ENSP00000342011.6:p.Phe333Ter
ENST00000396027.8:c.992_993del	ENSP00000379344.4:p.Phe331Ter
ENST00000511817.1:c.998_999del	ENSP00000421491.1:p.Phe333Ter
NM_003401.3:c.992_993del	NP_003392.1:p.Phe331Ter
NM_022406.2:c.998_999del	NP_071801.1:p.Phe333Ter
NM_022550.2:c.992_993del	NP_072044.1:p.Phe331Ter
XM_005248595.1:c.998_999del	XP_005248652.1:p.Phe333Ter
XM_011543626.1:c.998_999del	XP_011541928.1:p.Phe333Ter
XM_011543629.1:c.338_339del	XP_011541931.1:p.Phe113Ter
NM_001318012.1:c.998_999del	NP_001304941.1:p.Phe333Ter
NM_003401.4:c.992_993del	NP_003392.1:p.Phe331Ter
NM_022406.3:c.998_999del	NP_071801.1:p.Phe333Ter
NM_022550.3:c.992_993del	NP_072044.1:p.Phe331Ter
XM_017009827.2:c.894-17038_894-17037del	XP_016865316.1:n.894-17038_894-17037del
NM_001318012.2:c.998_999del	NP_001304941.1:p.Phe333Ter
NM_003401.5:c.992_993del MANE Select	NP_003392.1:p.Phe331Ter
NM_022406.4:c.998_999del	NP_071801.1:p.Phe333Ter
NM_001318012.3:c.998_999del	NP_001304941.1:p.Phe333Ter
NM_022406.5:c.998_999del	NP_071801.1:p.Phe333Ter
NM_022550.4:c.992_993del	NP_072044.1:p.Phe331Ter