Canonical Allele Identifier: CA1549989016

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904674_60904679delinsATATAT , CM000667.2:g.60904674_60904679delinsATATAT	GRCh38
NC_000005.9:g.60200501_60200506delinsATATAT , CM000667.1:g.60200501_60200506delinsATATAT	GRCh37
NC_000005.8:g.60236258_60236263delinsATATAT	NCBI36
NG_009289.1:g.45400_45405delinsATATAT , LRG_466:g.45400_45405delinsATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+113_481+118delinsATATAT	ENSP00000408344.2:n.481+113_481+118delinsATATAT
ENST00000647431.2:c.582+113_582+118delinsATATAT	ENSP00000494726.2:n.582+113_582+118delinsATATAT
ENST00000647486.2:c.481+113_481+118delinsATATAT	ENSP00000494466.2:n.481+113_481+118delinsATATAT
ENST00000675042.2:c.307+113_307+118delinsATATAT	ENSP00000502082.2:n.307+113_307+118delinsATATAT
ENST00000675452.2:c.*446+113_*446+118delinsATATAT	ENSP00000506954.1:n.*446+113_*446+118delinsATATAT
ENST00000682217.1:c.481+113_481+118delinsATATAT	ENSP00000507570.1:n.481+113_481+118delinsATATAT
ENST00000682246.1:n.537+113_537+118delinsATATAT
ENST00000682375.1:c.*311+113_*311+118delinsATATAT	ENSP00000507551.1:n.*311+113_*311+118delinsATATAT
ENST00000683052.1:c.283+113_283+118delinsATATAT	ENSP00000507072.1:n.283+113_283+118delinsATATAT
ENST00000683199.1:n.503+113_503+118delinsATATAT
ENST00000683216.1:n.750+109_750+114delinsATATAT
ENST00000683460.1:c.*311+113_*311+118delinsATATAT	ENSP00000507820.1:n.*311+113_*311+118delinsATATAT
ENST00000684394.1:n.536+113_536+118delinsATATAT
ENST00000684453.1:n.531+113_531+118delinsATATAT
ENST00000684621.1:n.537+113_537+118delinsATATAT
ENST00000265038.10:c.481+113_481+118delinsATATAT	ENSP00000265038.6:n.481+113_481+118delinsATATAT
ENST00000497892.6:c.*279+113_*279+118delinsATATAT	ENSP00000501805.1:n.*279+113_*279+118delinsATATAT
ENST00000643034.1:c.*373+113_*373+118delinsATATAT	ENSP00000496080.1:n.*373+113_*373+118delinsATATAT
ENST00000643708.1:c.*311+113_*311+118delinsATATAT	ENSP00000494199.1:n.*311+113_*311+118delinsATATAT
ENST00000647431.1:c.533+113_533+118delinsATATAT
ENST00000647486.1:c.432+113_432+118delinsATATAT
ENST00000675042.1:c.307+113_307+118delinsATATAT	ENSP00000502082.1:n.307+113_307+118delinsATATAT
ENST00000675229.1:c.481+113_481+118delinsATATAT	ENSP00000502154.1:n.481+113_481+118delinsATATAT
ENST00000675378.1:c.481+113_481+118delinsATATAT	ENSP00000502535.1:n.481+113_481+118delinsATATAT
ENST00000675452.1:n.730+113_730+118delinsATATAT
ENST00000675920.1:n.1089+113_1089+118delinsATATAT
ENST00000676185.1:c.481+113_481+118delinsATATAT MANE Select	ENSP00000501614.1:n.481+113_481+118delinsATATAT
ENST00000265038.9:c.481+113_481+118delinsATATAT	ENSP00000265038.5:n.481+113_481+118delinsATATAT
ENST00000381118.7:c.*525+113_*525+118delinsATATAT	ENSP00000370510.3:n.*525+113_*525+118delinsATATAT
ENST00000439176.5:c.307+113_307+118delinsATATAT	ENSP00000408344.1:n.307+113_307+118delinsATATAT
ENST00000462279.5:n.326+113_326+118delinsATATAT
ENST00000484330.5:n.227-2171_227-2166delinsATATAT
ENST00000495985.5:n.258+109_258+114delinsATATAT
ENST00000497892.5:n.524+113_524+118delinsATATAT
NM_000082.3:c.481+113_481+118delinsATATAT , LRG_466t1:c.481+113_481+118delinsATATAT	NP_000073.1:n.481+113_481+118delinsATATAT
NM_001007233.2:c.307+113_307+118delinsATATAT	NP_001007234.1:n.307+113_307+118delinsATATAT
NM_001007234.2:c.481+113_481+118delinsATATAT	NP_001007235.1:n.481+113_481+118delinsATATAT
NM_001290285.1:c.23-963_23-958delinsATATAT	NP_001277214.1:n.23-963_23-958delinsATATAT
NM_001007234.3:c.481+113_481+118delinsATATAT	NP_001007235.1:n.481+113_481+118delinsATATAT
NM_000082.4:c.481+113_481+118delinsATATAT MANE Select	NP_000073.1:n.481+113_481+118delinsATATAT
NM_001007233.3:c.307+113_307+118delinsATATAT	NP_001007234.1:n.307+113_307+118delinsATATAT
NM_001290285.2:c.23-963_23-958delinsATATAT	NP_001277214.1:n.23-963_23-958delinsATATAT