Canonical Allele Identifier: CA1549989002

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904668_60904669delinsAT , CM000667.2:g.60904668_60904669delinsAT	GRCh38
NC_000005.9:g.60200495_60200496delinsAT , CM000667.1:g.60200495_60200496delinsAT	GRCh37
NC_000005.8:g.60236252_60236253delinsAT	NCBI36
NG_009289.1:g.45410_45411delinsAT , LRG_466:g.45410_45411delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+123_481+124delinsAT	ENSP00000408344.2:n.481+123_481+124delinsAT
ENST00000647431.2:c.582+123_582+124delinsAT	ENSP00000494726.2:n.582+123_582+124delinsAT
ENST00000647486.2:c.481+123_481+124delinsAT	ENSP00000494466.2:n.481+123_481+124delinsAT
ENST00000675042.2:c.307+123_307+124delinsAT	ENSP00000502082.2:n.307+123_307+124delinsAT
ENST00000675452.2:c.*446+123_*446+124delinsAT	ENSP00000506954.1:n.*446+123_*446+124delinsAT
ENST00000682217.1:c.481+123_481+124delinsAT	ENSP00000507570.1:n.481+123_481+124delinsAT
ENST00000682246.1:n.537+123_537+124delinsAT
ENST00000682375.1:c.*311+123_*311+124delinsAT	ENSP00000507551.1:n.*311+123_*311+124delinsAT
ENST00000683052.1:c.283+123_283+124delinsAT	ENSP00000507072.1:n.283+123_283+124delinsAT
ENST00000683199.1:n.503+123_503+124delinsAT
ENST00000683216.1:n.750+119_750+120delinsAT
ENST00000683460.1:c.*311+123_*311+124delinsAT	ENSP00000507820.1:n.*311+123_*311+124delinsAT
ENST00000684394.1:n.536+123_536+124delinsAT
ENST00000684453.1:n.531+123_531+124delinsAT
ENST00000684621.1:n.537+123_537+124delinsAT
ENST00000265038.10:c.481+123_481+124delinsAT	ENSP00000265038.6:n.481+123_481+124delinsAT
ENST00000497892.6:c.*279+123_*279+124delinsAT	ENSP00000501805.1:n.*279+123_*279+124delinsAT
ENST00000643034.1:c.*373+123_*373+124delinsAT	ENSP00000496080.1:n.*373+123_*373+124delinsAT
ENST00000643708.1:c.*311+123_*311+124delinsAT	ENSP00000494199.1:n.*311+123_*311+124delinsAT
ENST00000647431.1:c.533+123_533+124delinsAT
ENST00000647486.1:c.432+123_432+124delinsAT
ENST00000675042.1:c.307+123_307+124delinsAT	ENSP00000502082.1:n.307+123_307+124delinsAT
ENST00000675229.1:c.481+123_481+124delinsAT	ENSP00000502154.1:n.481+123_481+124delinsAT
ENST00000675378.1:c.481+123_481+124delinsAT	ENSP00000502535.1:n.481+123_481+124delinsAT
ENST00000675452.1:n.730+123_730+124delinsAT
ENST00000675920.1:n.1089+123_1089+124delinsAT
ENST00000676185.1:c.481+123_481+124delinsAT MANE Select	ENSP00000501614.1:n.481+123_481+124delinsAT
ENST00000265038.9:c.481+123_481+124delinsAT	ENSP00000265038.5:n.481+123_481+124delinsAT
ENST00000381118.7:c.*525+123_*525+124delinsAT	ENSP00000370510.3:n.*525+123_*525+124delinsAT
ENST00000439176.5:c.307+123_307+124delinsAT	ENSP00000408344.1:n.307+123_307+124delinsAT
ENST00000462279.5:n.326+123_326+124delinsAT
ENST00000484330.5:n.227-2161_227-2160delinsAT
ENST00000495985.5:n.258+119_258+120delinsAT
ENST00000497892.5:n.524+123_524+124delinsAT
NM_000082.3:c.481+123_481+124delinsAT , LRG_466t1:c.481+123_481+124delinsAT	NP_000073.1:n.481+123_481+124delinsAT
NM_001007233.2:c.307+123_307+124delinsAT	NP_001007234.1:n.307+123_307+124delinsAT
NM_001007234.2:c.481+123_481+124delinsAT	NP_001007235.1:n.481+123_481+124delinsAT
NM_001290285.1:c.23-953_23-952delinsAT	NP_001277214.1:n.23-953_23-952delinsAT
NM_001007234.3:c.481+123_481+124delinsAT	NP_001007235.1:n.481+123_481+124delinsAT
NM_000082.4:c.481+123_481+124delinsAT MANE Select	NP_000073.1:n.481+123_481+124delinsAT
NM_001007233.3:c.307+123_307+124delinsAT	NP_001007234.1:n.307+123_307+124delinsAT
NM_001290285.2:c.23-953_23-952delinsAT	NP_001277214.1:n.23-953_23-952delinsAT