Canonical Allele Identifier: CA2766659822
Gene: ERCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60904625_60904626insTT , CM000667.2:g.60904625_60904626insTT GRCh38
NC_000005.9:g.60200452_60200453insTT , CM000667.1:g.60200452_60200453insTT GRCh37
NC_000005.8:g.60236209_60236210insTT NCBI36
NG_009289.1:g.45454_45455insAA , LRG_466:g.45454_45455insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000439176.6:c.481+167_481+168insAA ENSP00000408344.2:n.481+167_481+168insAA
ENST00000647431.2:c.582+167_582+168insAA ENSP00000494726.2:n.582+167_582+168insAA
ENST00000647486.2:c.481+167_481+168insAA ENSP00000494466.2:n.481+167_481+168insAA
ENST00000675042.2:c.307+167_307+168insAA ENSP00000502082.2:n.307+167_307+168insAA
ENST00000675452.2:c.*446+167_*446+168insAA ENSP00000506954.1:n.*446+167_*446+168insAA
ENST00000682217.1:c.481+167_481+168insAA ENSP00000507570.1:n.481+167_481+168insAA
ENST00000682246.1:n.537+167_537+168insAA
ENST00000682375.1:c.*311+167_*311+168insAA ENSP00000507551.1:n.*311+167_*311+168insAA
ENST00000683052.1:c.283+167_283+168insAA ENSP00000507072.1:n.283+167_283+168insAA
ENST00000683199.1:n.503+167_503+168insAA
ENST00000683216.1:n.750+163_750+164insAA
ENST00000683460.1:c.*311+167_*311+168insAA ENSP00000507820.1:n.*311+167_*311+168insAA
ENST00000684394.1:n.536+167_536+168insAA
ENST00000684453.1:n.531+167_531+168insAA
ENST00000684621.1:n.537+167_537+168insAA
ENST00000265038.10:c.481+167_481+168insAA ENSP00000265038.6:n.481+167_481+168insAA
ENST00000497892.6:c.*279+167_*279+168insAA ENSP00000501805.1:n.*279+167_*279+168insAA
ENST00000643034.1:c.*373+167_*373+168insAA ENSP00000496080.1:n.*373+167_*373+168insAA
ENST00000643708.1:c.*311+167_*311+168insAA ENSP00000494199.1:n.*311+167_*311+168insAA
ENST00000647431.1:c.533+167_533+168insAA
ENST00000647486.1:c.432+167_432+168insAA
ENST00000675042.1:c.307+167_307+168insAA ENSP00000502082.1:n.307+167_307+168insAA
ENST00000675229.1:c.481+167_481+168insAA ENSP00000502154.1:n.481+167_481+168insAA
ENST00000675378.1:c.481+167_481+168insAA ENSP00000502535.1:n.481+167_481+168insAA
ENST00000675452.1:n.730+167_730+168insAA
ENST00000675920.1:n.1089+167_1089+168insAA
ENST00000676185.1:c.481+167_481+168insAA MANE Select ENSP00000501614.1:n.481+167_481+168insAA
ENST00000265038.9:c.481+167_481+168insAA ENSP00000265038.5:n.481+167_481+168insAA
ENST00000381118.7:c.*525+167_*525+168insAA ENSP00000370510.3:n.*525+167_*525+168insAA
ENST00000439176.5:c.307+167_307+168insAA ENSP00000408344.1:n.307+167_307+168insAA
ENST00000462279.5:n.326+167_326+168insAA
ENST00000484330.5:n.227-2117_227-2116insAA
ENST00000495985.5:n.258+163_258+164insAA
ENST00000497892.5:n.524+167_524+168insAA
NM_000082.3:c.481+167_481+168insAA , LRG_466t1:c.481+167_481+168insAA NP_000073.1:n.481+167_481+168insAA
NM_001007233.2:c.307+167_307+168insAA NP_001007234.1:n.307+167_307+168insAA
NM_001007234.2:c.481+167_481+168insAA NP_001007235.1:n.481+167_481+168insAA
NM_001290285.1:c.23-909_23-908insAA NP_001277214.1:n.23-909_23-908insAA
NM_001007234.3:c.481+167_481+168insAA NP_001007235.1:n.481+167_481+168insAA
NM_000082.4:c.481+167_481+168insAA MANE Select NP_000073.1:n.481+167_481+168insAA
NM_001007233.3:c.307+167_307+168insAA NP_001007234.1:n.307+167_307+168insAA
NM_001290285.2:c.23-909_23-908insAA NP_001277214.1:n.23-909_23-908insAA