Canonical Allele Identifier: CA2562986890

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904680_60904681insAT , CM000667.2:g.60904680_60904681insAT	GRCh38
NC_000005.9:g.60200507_60200508insAT , CM000667.1:g.60200507_60200508insAT	GRCh37
NC_000005.8:g.60236264_60236265insAT	NCBI36
NG_009289.1:g.45398_45399insAT , LRG_466:g.45398_45399insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+111_481+112insAT	ENSP00000408344.2:n.481+111_481+112insAT
ENST00000647431.2:c.582+111_582+112insAT	ENSP00000494726.2:n.582+111_582+112insAT
ENST00000647486.2:c.481+111_481+112insAT	ENSP00000494466.2:n.481+111_481+112insAT
ENST00000675042.2:c.307+111_307+112insAT	ENSP00000502082.2:n.307+111_307+112insAT
ENST00000675452.2:c.*446+111_*446+112insAT	ENSP00000506954.1:n.*446+111_*446+112insAT
ENST00000682217.1:c.481+111_481+112insAT	ENSP00000507570.1:n.481+111_481+112insAT
ENST00000682246.1:n.537+111_537+112insAT
ENST00000682375.1:c.*311+111_*311+112insAT	ENSP00000507551.1:n.*311+111_*311+112insAT
ENST00000683052.1:c.283+111_283+112insAT	ENSP00000507072.1:n.283+111_283+112insAT
ENST00000683199.1:n.503+111_503+112insAT
ENST00000683216.1:n.750+107_750+108insAT
ENST00000683460.1:c.*311+111_*311+112insAT	ENSP00000507820.1:n.*311+111_*311+112insAT
ENST00000684394.1:n.536+111_536+112insAT
ENST00000684453.1:n.531+111_531+112insAT
ENST00000684621.1:n.537+111_537+112insAT
ENST00000265038.10:c.481+111_481+112insAT	ENSP00000265038.6:n.481+111_481+112insAT
ENST00000497892.6:c.*279+111_*279+112insAT	ENSP00000501805.1:n.*279+111_*279+112insAT
ENST00000643034.1:c.*373+111_*373+112insAT	ENSP00000496080.1:n.*373+111_*373+112insAT
ENST00000643708.1:c.*311+111_*311+112insAT	ENSP00000494199.1:n.*311+111_*311+112insAT
ENST00000647431.1:c.533+111_533+112insAT
ENST00000647486.1:c.432+111_432+112insAT
ENST00000675042.1:c.307+111_307+112insAT	ENSP00000502082.1:n.307+111_307+112insAT
ENST00000675229.1:c.481+111_481+112insAT	ENSP00000502154.1:n.481+111_481+112insAT
ENST00000675378.1:c.481+111_481+112insAT	ENSP00000502535.1:n.481+111_481+112insAT
ENST00000675452.1:n.730+111_730+112insAT
ENST00000675920.1:n.1089+111_1089+112insAT
ENST00000676185.1:c.481+111_481+112insAT MANE Select	ENSP00000501614.1:n.481+111_481+112insAT
ENST00000265038.9:c.481+111_481+112insAT	ENSP00000265038.5:n.481+111_481+112insAT
ENST00000381118.7:c.*525+111_*525+112insAT	ENSP00000370510.3:n.*525+111_*525+112insAT
ENST00000439176.5:c.307+111_307+112insAT	ENSP00000408344.1:n.307+111_307+112insAT
ENST00000462279.5:n.326+111_326+112insAT
ENST00000484330.5:n.227-2173_227-2172insAT
ENST00000495985.5:n.258+107_258+108insAT
ENST00000497892.5:n.524+111_524+112insAT
NM_000082.3:c.481+111_481+112insAT , LRG_466t1:c.481+111_481+112insAT	NP_000073.1:n.481+111_481+112insAT
NM_001007233.2:c.307+111_307+112insAT	NP_001007234.1:n.307+111_307+112insAT
NM_001007234.2:c.481+111_481+112insAT	NP_001007235.1:n.481+111_481+112insAT
NM_001290285.1:c.23-965_23-964insAT	NP_001277214.1:n.23-965_23-964insAT
NM_001007234.3:c.481+111_481+112insAT	NP_001007235.1:n.481+111_481+112insAT
NM_000082.4:c.481+111_481+112insAT MANE Select	NP_000073.1:n.481+111_481+112insAT
NM_001007233.3:c.307+111_307+112insAT	NP_001007234.1:n.307+111_307+112insAT
NM_001290285.2:c.23-965_23-964insAT	NP_001277214.1:n.23-965_23-964insAT