Canonical Allele Identifier: CA2556009128

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887462del , CM000667.2:g.60887462del	GRCh38
NC_000005.9:g.60183289del , CM000667.1:g.60183289del	GRCh37
NC_000005.8:g.60219046del	NCBI36
NG_009289.1:g.62618del , LRG_466:g.62618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10815del	ENSP00000408344.2:n.855+10815del
ENST00000647431.2:c.1202del	ENSP00000494726.2:n.1202del
ENST00000675042.2:c.927del	ENSP00000502082.2:p.Glu309AspfsTer15
ENST00000675452.2:c.*1066del	ENSP00000506954.1:n.*1066del
ENST00000682217.1:c.903del	ENSP00000507570.1:p.Glu301AspfsTer15
ENST00000682375.1:c.*931del	ENSP00000507551.1:n.*931del
ENST00000683052.1:c.903del	ENSP00000507072.1:p.Glu301AspfsTer15
ENST00000683216.1:n.4738del
ENST00000683460.1:c.*2538del	ENSP00000507820.1:n.*2538del
ENST00000683688.1:n.2847del
ENST00000684621.1:n.959del
ENST00000265038.10:c.1158del	ENSP00000265038.6:p.Glu386AspfsTer15
ENST00000643034.1:c.*993del	ENSP00000496080.1:n.*993del
ENST00000643708.1:c.*931del	ENSP00000494199.1:n.*931del
ENST00000647431.1:c.1153del
ENST00000675378.1:c.*102del	ENSP00000502535.1:n.*102del
ENST00000675452.1:n.1350del
ENST00000676185.1:c.1101del MANE Select	ENSP00000501614.1:p.Glu367AspfsTer15
ENST00000265038.9:c.1101del	ENSP00000265038.5:p.Glu367AspfsTer15
ENST00000381118.7:c.*1145del	ENSP00000370510.3:n.*1145del
ENST00000462279.5:n.2553del
NM_000082.3:c.1101del , LRG_466t1:c.1101del	NP_000073.1:p.Glu367AspfsTer15
NM_001007233.2:c.927del	NP_001007234.1:p.Glu309AspfsTer15
NM_001290285.1:c.642del	NP_001277214.1:p.Glu214AspfsTer15
NM_000082.4:c.1101del MANE Select	NP_000073.1:p.Glu367AspfsTer15
NM_001007233.3:c.927del	NP_001007234.1:p.Glu309AspfsTer15
NM_001290285.2:c.642del	NP_001277214.1:p.Glu214AspfsTer15