Canonical Allele Identifier: CA1549988857

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904621_60904622delinsAG , CM000667.2:g.60904621_60904622delinsAG	GRCh38
NC_000005.9:g.60200448_60200449delinsAG , CM000667.1:g.60200448_60200449delinsAG	GRCh37
NC_000005.8:g.60236205_60236206delinsAG	NCBI36
NG_009289.1:g.45457_45458delinsCT , LRG_466:g.45457_45458delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+170_481+171delinsCT	ENSP00000408344.2:n.481+170_481+171delinsCT
ENST00000647431.2:c.582+170_582+171delinsCT	ENSP00000494726.2:n.582+170_582+171delinsCT
ENST00000647486.2:c.481+170_481+171delinsCT	ENSP00000494466.2:n.481+170_481+171delinsCT
ENST00000675042.2:c.307+170_307+171delinsCT	ENSP00000502082.2:n.307+170_307+171delinsCT
ENST00000675452.2:c.*446+170_*446+171delinsCT	ENSP00000506954.1:n.*446+170_*446+171delinsCT
ENST00000682217.1:c.481+170_481+171delinsCT	ENSP00000507570.1:n.481+170_481+171delinsCT
ENST00000682246.1:n.537+170_537+171delinsCT
ENST00000682375.1:c.*311+170_*311+171delinsCT	ENSP00000507551.1:n.*311+170_*311+171delinsCT
ENST00000683052.1:c.283+170_283+171delinsCT	ENSP00000507072.1:n.283+170_283+171delinsCT
ENST00000683199.1:n.503+170_503+171delinsCT
ENST00000683216.1:n.750+166_750+167delinsCT
ENST00000683460.1:c.*311+170_*311+171delinsCT	ENSP00000507820.1:n.*311+170_*311+171delinsCT
ENST00000684394.1:n.536+170_536+171delinsCT
ENST00000684453.1:n.531+170_531+171delinsCT
ENST00000684621.1:n.537+170_537+171delinsCT
ENST00000265038.10:c.481+170_481+171delinsCT	ENSP00000265038.6:n.481+170_481+171delinsCT
ENST00000497892.6:c.*279+170_*279+171delinsCT	ENSP00000501805.1:n.*279+170_*279+171delinsCT
ENST00000643034.1:c.*373+170_*373+171delinsCT	ENSP00000496080.1:n.*373+170_*373+171delinsCT
ENST00000643708.1:c.*311+170_*311+171delinsCT	ENSP00000494199.1:n.*311+170_*311+171delinsCT
ENST00000647431.1:c.533+170_533+171delinsCT
ENST00000647486.1:c.432+170_432+171delinsCT
ENST00000675042.1:c.307+170_307+171delinsCT	ENSP00000502082.1:n.307+170_307+171delinsCT
ENST00000675229.1:c.481+170_481+171delinsCT	ENSP00000502154.1:n.481+170_481+171delinsCT
ENST00000675378.1:c.481+170_481+171delinsCT	ENSP00000502535.1:n.481+170_481+171delinsCT
ENST00000675452.1:n.730+170_730+171delinsCT
ENST00000675920.1:n.1089+170_1089+171delinsCT
ENST00000676185.1:c.481+170_481+171delinsCT MANE Select	ENSP00000501614.1:n.481+170_481+171delinsCT
ENST00000265038.9:c.481+170_481+171delinsCT	ENSP00000265038.5:n.481+170_481+171delinsCT
ENST00000381118.7:c.*525+170_*525+171delinsCT	ENSP00000370510.3:n.*525+170_*525+171delinsCT
ENST00000439176.5:c.307+170_307+171delinsCT	ENSP00000408344.1:n.307+170_307+171delinsCT
ENST00000462279.5:n.326+170_326+171delinsCT
ENST00000484330.5:n.227-2114_227-2113delinsCT
ENST00000495985.5:n.258+166_258+167delinsCT
ENST00000497892.5:n.524+170_524+171delinsCT
NM_000082.3:c.481+170_481+171delinsCT , LRG_466t1:c.481+170_481+171delinsCT	NP_000073.1:n.481+170_481+171delinsCT
NM_001007233.2:c.307+170_307+171delinsCT	NP_001007234.1:n.307+170_307+171delinsCT
NM_001007234.2:c.481+170_481+171delinsCT	NP_001007235.1:n.481+170_481+171delinsCT
NM_001290285.1:c.23-906_23-905delinsCT	NP_001277214.1:n.23-906_23-905delinsCT
NM_001007234.3:c.481+170_481+171delinsCT	NP_001007235.1:n.481+170_481+171delinsCT
NM_000082.4:c.481+170_481+171delinsCT MANE Select	NP_000073.1:n.481+170_481+171delinsCT
NM_001007233.3:c.307+170_307+171delinsCT	NP_001007234.1:n.307+170_307+171delinsCT
NM_001290285.2:c.23-906_23-905delinsCT	NP_001277214.1:n.23-906_23-905delinsCT