Canonical Allele Identifier: CA1549989032

Gene: ERCC8

Linked Data

• dbSNP Id: rs1749016094

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904681_60904682insGTAT , CM000667.2:g.60904681_60904682insGTAT	GRCh38
NC_000005.9:g.60200508_60200509insGTAT , CM000667.1:g.60200508_60200509insGTAT	GRCh37
NC_000005.8:g.60236265_60236266insGTAT	NCBI36
NG_009289.1:g.45400_45401insCATA , LRG_466:g.45400_45401insCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+113_481+114insCATA	ENSP00000408344.2:n.481+113_481+114insCATA
ENST00000647431.2:c.582+113_582+114insCATA	ENSP00000494726.2:n.582+113_582+114insCATA
ENST00000647486.2:c.481+113_481+114insCATA	ENSP00000494466.2:n.481+113_481+114insCATA
ENST00000675042.2:c.307+113_307+114insCATA	ENSP00000502082.2:n.307+113_307+114insCATA
ENST00000675452.2:c.*446+113_*446+114insCATA	ENSP00000506954.1:n.*446+113_*446+114insCATA
ENST00000682217.1:c.481+113_481+114insCATA	ENSP00000507570.1:n.481+113_481+114insCATA
ENST00000682246.1:n.537+113_537+114insCATA
ENST00000682375.1:c.*311+113_*311+114insCATA	ENSP00000507551.1:n.*311+113_*311+114insCATA
ENST00000683052.1:c.283+113_283+114insCATA	ENSP00000507072.1:n.283+113_283+114insCATA
ENST00000683199.1:n.503+113_503+114insCATA
ENST00000683216.1:n.750+109_750+110insCATA
ENST00000683460.1:c.*311+113_*311+114insCATA	ENSP00000507820.1:n.*311+113_*311+114insCATA
ENST00000684394.1:n.536+113_536+114insCATA
ENST00000684453.1:n.531+113_531+114insCATA
ENST00000684621.1:n.537+113_537+114insCATA
ENST00000265038.10:c.481+113_481+114insCATA	ENSP00000265038.6:n.481+113_481+114insCATA
ENST00000497892.6:c.*279+113_*279+114insCATA	ENSP00000501805.1:n.*279+113_*279+114insCATA
ENST00000643034.1:c.*373+113_*373+114insCATA	ENSP00000496080.1:n.*373+113_*373+114insCATA
ENST00000643708.1:c.*311+113_*311+114insCATA	ENSP00000494199.1:n.*311+113_*311+114insCATA
ENST00000647431.1:c.533+113_533+114insCATA
ENST00000647486.1:c.432+113_432+114insCATA
ENST00000675042.1:c.307+113_307+114insCATA	ENSP00000502082.1:n.307+113_307+114insCATA
ENST00000675229.1:c.481+113_481+114insCATA	ENSP00000502154.1:n.481+113_481+114insCATA
ENST00000675378.1:c.481+113_481+114insCATA	ENSP00000502535.1:n.481+113_481+114insCATA
ENST00000675452.1:n.730+113_730+114insCATA
ENST00000675920.1:n.1089+113_1089+114insCATA
ENST00000676185.1:c.481+113_481+114insCATA MANE Select	ENSP00000501614.1:n.481+113_481+114insCATA
ENST00000265038.9:c.481+113_481+114insCATA	ENSP00000265038.5:n.481+113_481+114insCATA
ENST00000381118.7:c.*525+113_*525+114insCATA	ENSP00000370510.3:n.*525+113_*525+114insCATA
ENST00000439176.5:c.307+113_307+114insCATA	ENSP00000408344.1:n.307+113_307+114insCATA
ENST00000462279.5:n.326+113_326+114insCATA
ENST00000484330.5:n.227-2171_227-2170insCATA
ENST00000495985.5:n.258+109_258+110insCATA
ENST00000497892.5:n.524+113_524+114insCATA
NM_000082.3:c.481+113_481+114insCATA , LRG_466t1:c.481+113_481+114insCATA	NP_000073.1:n.481+113_481+114insCATA
NM_001007233.2:c.307+113_307+114insCATA	NP_001007234.1:n.307+113_307+114insCATA
NM_001007234.2:c.481+113_481+114insCATA	NP_001007235.1:n.481+113_481+114insCATA
NM_001290285.1:c.23-963_23-962insCATA	NP_001277214.1:n.23-963_23-962insCATA
NM_001007234.3:c.481+113_481+114insCATA	NP_001007235.1:n.481+113_481+114insCATA
NM_000082.4:c.481+113_481+114insCATA MANE Select	NP_000073.1:n.481+113_481+114insCATA
NM_001007233.3:c.307+113_307+114insCATA	NP_001007234.1:n.307+113_307+114insCATA
NM_001290285.2:c.23-963_23-962insCATA	NP_001277214.1:n.23-963_23-962insCATA