Canonical Allele Identifier: CA1549988998

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904666_60904667delinsAT , CM000667.2:g.60904666_60904667delinsAT	GRCh38
NC_000005.9:g.60200493_60200494delinsAT , CM000667.1:g.60200493_60200494delinsAT	GRCh37
NC_000005.8:g.60236250_60236251delinsAT	NCBI36
NG_009289.1:g.45412_45413delinsAT , LRG_466:g.45412_45413delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+125_481+126delinsAT	ENSP00000408344.2:n.481+125_481+126delinsAT
ENST00000647431.2:c.582+125_582+126delinsAT	ENSP00000494726.2:n.582+125_582+126delinsAT
ENST00000647486.2:c.481+125_481+126delinsAT	ENSP00000494466.2:n.481+125_481+126delinsAT
ENST00000675042.2:c.307+125_307+126delinsAT	ENSP00000502082.2:n.307+125_307+126delinsAT
ENST00000675452.2:c.*446+125_*446+126delinsAT	ENSP00000506954.1:n.*446+125_*446+126delinsAT
ENST00000682217.1:c.481+125_481+126delinsAT	ENSP00000507570.1:n.481+125_481+126delinsAT
ENST00000682246.1:n.537+125_537+126delinsAT
ENST00000682375.1:c.*311+125_*311+126delinsAT	ENSP00000507551.1:n.*311+125_*311+126delinsAT
ENST00000683052.1:c.283+125_283+126delinsAT	ENSP00000507072.1:n.283+125_283+126delinsAT
ENST00000683199.1:n.503+125_503+126delinsAT
ENST00000683216.1:n.750+121_750+122delinsAT
ENST00000683460.1:c.*311+125_*311+126delinsAT	ENSP00000507820.1:n.*311+125_*311+126delinsAT
ENST00000684394.1:n.536+125_536+126delinsAT
ENST00000684453.1:n.531+125_531+126delinsAT
ENST00000684621.1:n.537+125_537+126delinsAT
ENST00000265038.10:c.481+125_481+126delinsAT	ENSP00000265038.6:n.481+125_481+126delinsAT
ENST00000497892.6:c.*279+125_*279+126delinsAT	ENSP00000501805.1:n.*279+125_*279+126delinsAT
ENST00000643034.1:c.*373+125_*373+126delinsAT	ENSP00000496080.1:n.*373+125_*373+126delinsAT
ENST00000643708.1:c.*311+125_*311+126delinsAT	ENSP00000494199.1:n.*311+125_*311+126delinsAT
ENST00000647431.1:c.533+125_533+126delinsAT
ENST00000647486.1:c.432+125_432+126delinsAT
ENST00000675042.1:c.307+125_307+126delinsAT	ENSP00000502082.1:n.307+125_307+126delinsAT
ENST00000675229.1:c.481+125_481+126delinsAT	ENSP00000502154.1:n.481+125_481+126delinsAT
ENST00000675378.1:c.481+125_481+126delinsAT	ENSP00000502535.1:n.481+125_481+126delinsAT
ENST00000675452.1:n.730+125_730+126delinsAT
ENST00000675920.1:n.1089+125_1089+126delinsAT
ENST00000676185.1:c.481+125_481+126delinsAT MANE Select	ENSP00000501614.1:n.481+125_481+126delinsAT
ENST00000265038.9:c.481+125_481+126delinsAT	ENSP00000265038.5:n.481+125_481+126delinsAT
ENST00000381118.7:c.*525+125_*525+126delinsAT	ENSP00000370510.3:n.*525+125_*525+126delinsAT
ENST00000439176.5:c.307+125_307+126delinsAT	ENSP00000408344.1:n.307+125_307+126delinsAT
ENST00000462279.5:n.326+125_326+126delinsAT
ENST00000484330.5:n.227-2159_227-2158delinsAT
ENST00000495985.5:n.258+121_258+122delinsAT
ENST00000497892.5:n.524+125_524+126delinsAT
NM_000082.3:c.481+125_481+126delinsAT , LRG_466t1:c.481+125_481+126delinsAT	NP_000073.1:n.481+125_481+126delinsAT
NM_001007233.2:c.307+125_307+126delinsAT	NP_001007234.1:n.307+125_307+126delinsAT
NM_001007234.2:c.481+125_481+126delinsAT	NP_001007235.1:n.481+125_481+126delinsAT
NM_001290285.1:c.23-951_23-950delinsAT	NP_001277214.1:n.23-951_23-950delinsAT
NM_001007234.3:c.481+125_481+126delinsAT	NP_001007235.1:n.481+125_481+126delinsAT
NM_000082.4:c.481+125_481+126delinsAT MANE Select	NP_000073.1:n.481+125_481+126delinsAT
NM_001007233.3:c.307+125_307+126delinsAT	NP_001007234.1:n.307+125_307+126delinsAT
NM_001290285.2:c.23-951_23-950delinsAT	NP_001277214.1:n.23-951_23-950delinsAT