Canonical Allele Identifier: CA1549988890

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904628_60904640delinsGTGTGTGTATATA , CM000667.2:g.60904628_60904640delinsGTGTGTGTATATA	GRCh38
NC_000005.9:g.60200455_60200467delinsGTGTGTGTATATA , CM000667.1:g.60200455_60200467delinsGTGTGTGTATATA	GRCh37
NC_000005.8:g.60236212_60236224delinsGTGTGTGTATATA	NCBI36
NG_009289.1:g.45439_45451delinsTATATACACACAC , LRG_466:g.45439_45451delinsTATATACACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+152_481+164delinsTATATACACACAC	ENSP00000408344.2:n.481+152_481+164delinsTATATACACACAC
ENST00000647431.2:c.582+152_582+164delinsTATATACACACAC	ENSP00000494726.2:n.582+152_582+164delinsTATATACACACAC
ENST00000647486.2:c.481+152_481+164delinsTATATACACACAC	ENSP00000494466.2:n.481+152_481+164delinsTATATACACACAC
ENST00000675042.2:c.307+152_307+164delinsTATATACACACAC	ENSP00000502082.2:n.307+152_307+164delinsTATATACACACAC
ENST00000675452.2:c.*446+152_*446+164delinsTATATACACACAC	ENSP00000506954.1:n.*446+152_*446+164delinsTATATACACACAC
ENST00000682217.1:c.481+152_481+164delinsTATATACACACAC	ENSP00000507570.1:n.481+152_481+164delinsTATATACACACAC
ENST00000682246.1:n.537+152_537+164delinsTATATACACACAC
ENST00000682375.1:c.*311+152_*311+164delinsTATATACACACAC	ENSP00000507551.1:n.*311+152_*311+164delinsTATATACACACAC
ENST00000683052.1:c.283+152_283+164delinsTATATACACACAC	ENSP00000507072.1:n.283+152_283+164delinsTATATACACACAC
ENST00000683199.1:n.503+152_503+164delinsTATATACACACAC
ENST00000683216.1:n.750+148_750+160delinsTATATACACACAC
ENST00000683460.1:c.*311+152_*311+164delinsTATATACACACAC	ENSP00000507820.1:n.*311+152_*311+164delinsTATATACACACAC
ENST00000684394.1:n.536+152_536+164delinsTATATACACACAC
ENST00000684453.1:n.531+152_531+164delinsTATATACACACAC
ENST00000684621.1:n.537+152_537+164delinsTATATACACACAC
ENST00000265038.10:c.481+152_481+164delinsTATATACACACAC	ENSP00000265038.6:n.481+152_481+164delinsTATATACACACAC
ENST00000497892.6:c.*279+152_*279+164delinsTATATACACACAC	ENSP00000501805.1:n.*279+152_*279+164delinsTATATACACACAC
ENST00000643034.1:c.*373+152_*373+164delinsTATATACACACAC	ENSP00000496080.1:n.*373+152_*373+164delinsTATATACACACAC
ENST00000643708.1:c.*311+152_*311+164delinsTATATACACACAC	ENSP00000494199.1:n.*311+152_*311+164delinsTATATACACACAC
ENST00000647431.1:c.533+152_533+164delinsTATATACACACAC
ENST00000647486.1:c.432+152_432+164delinsTATATACACACAC
ENST00000675042.1:c.307+152_307+164delinsTATATACACACAC	ENSP00000502082.1:n.307+152_307+164delinsTATATACACACAC
ENST00000675229.1:c.481+152_481+164delinsTATATACACACAC	ENSP00000502154.1:n.481+152_481+164delinsTATATACACACAC
ENST00000675378.1:c.481+152_481+164delinsTATATACACACAC	ENSP00000502535.1:n.481+152_481+164delinsTATATACACACAC
ENST00000675452.1:n.730+152_730+164delinsTATATACACACAC
ENST00000675920.1:n.1089+152_1089+164delinsTATATACACACAC
ENST00000676185.1:c.481+152_481+164delinsTATATACACACAC MANE Select	ENSP00000501614.1:n.481+152_481+164delinsTATATACACACAC
ENST00000265038.9:c.481+152_481+164delinsTATATACACACAC	ENSP00000265038.5:n.481+152_481+164delinsTATATACACACAC
ENST00000381118.7:c.*525+152_*525+164delinsTATATACACACAC	ENSP00000370510.3:n.*525+152_*525+164delinsTATATACACACAC
ENST00000439176.5:c.307+152_307+164delinsTATATACACACAC	ENSP00000408344.1:n.307+152_307+164delinsTATATACACACAC
ENST00000462279.5:n.326+152_326+164delinsTATATACACACAC
ENST00000484330.5:n.227-2132_227-2120delinsTATATACACACAC
ENST00000495985.5:n.258+148_258+160delinsTATATACACACAC
ENST00000497892.5:n.524+152_524+164delinsTATATACACACAC
NM_000082.3:c.481+152_481+164delinsTATATACACACAC , LRG_466t1:c.481+152_481+164delinsTATATACACACAC	NP_000073.1:n.481+152_481+164delinsTATATACACACAC
NM_001007233.2:c.307+152_307+164delinsTATATACACACAC	NP_001007234.1:n.307+152_307+164delinsTATATACACACAC
NM_001007234.2:c.481+152_481+164delinsTATATACACACAC	NP_001007235.1:n.481+152_481+164delinsTATATACACACAC
NM_001290285.1:c.23-924_23-912delinsTATATACACACAC	NP_001277214.1:n.23-924_23-912delinsTATATACACACAC
NM_001007234.3:c.481+152_481+164delinsTATATACACACAC	NP_001007235.1:n.481+152_481+164delinsTATATACACACAC
NM_000082.4:c.481+152_481+164delinsTATATACACACAC MANE Select	NP_000073.1:n.481+152_481+164delinsTATATACACACAC
NM_001007233.3:c.307+152_307+164delinsTATATACACACAC	NP_001007234.1:n.307+152_307+164delinsTATATACACACAC
NM_001290285.2:c.23-924_23-912delinsTATATACACACAC	NP_001277214.1:n.23-924_23-912delinsTATATACACACAC