Canonical Allele Identifier: CA1549988855
Gene: ERCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60904621_60904634delinsAGTGTGTGTGTGTG , CM000667.2:g.60904621_60904634delinsAGTGTGTGTGTGTG GRCh38
NC_000005.9:g.60200448_60200461delinsAGTGTGTGTGTGTG , CM000667.1:g.60200448_60200461delinsAGTGTGTGTGTGTG GRCh37
NC_000005.8:g.60236205_60236218delinsAGTGTGTGTGTGTG NCBI36
NG_009289.1:g.45445_45458delinsCACACACACACACT , LRG_466:g.45445_45458delinsCACACACACACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000439176.6:c.481+158_481+171delinsCACACACACACACT ENSP00000408344.2:n.481+158_481+171delinsCACACACACACACT
ENST00000647431.2:c.582+158_582+171delinsCACACACACACACT ENSP00000494726.2:n.582+158_582+171delinsCACACACACACACT
ENST00000647486.2:c.481+158_481+171delinsCACACACACACACT ENSP00000494466.2:n.481+158_481+171delinsCACACACACACACT
ENST00000675042.2:c.307+158_307+171delinsCACACACACACACT ENSP00000502082.2:n.307+158_307+171delinsCACACACACACACT
ENST00000675452.2:c.*446+158_*446+171delinsCACACACACACACT ENSP00000506954.1:n.*446+158_*446+171delinsCACACACACACACT
ENST00000682217.1:c.481+158_481+171delinsCACACACACACACT ENSP00000507570.1:n.481+158_481+171delinsCACACACACACACT
ENST00000682246.1:n.537+158_537+171delinsCACACACACACACT
ENST00000682375.1:c.*311+158_*311+171delinsCACACACACACACT ENSP00000507551.1:n.*311+158_*311+171delinsCACACACACACACT
ENST00000683052.1:c.283+158_283+171delinsCACACACACACACT ENSP00000507072.1:n.283+158_283+171delinsCACACACACACACT
ENST00000683199.1:n.503+158_503+171delinsCACACACACACACT
ENST00000683216.1:n.750+154_750+167delinsCACACACACACACT
ENST00000683460.1:c.*311+158_*311+171delinsCACACACACACACT ENSP00000507820.1:n.*311+158_*311+171delinsCACACACACACACT
ENST00000684394.1:n.536+158_536+171delinsCACACACACACACT
ENST00000684453.1:n.531+158_531+171delinsCACACACACACACT
ENST00000684621.1:n.537+158_537+171delinsCACACACACACACT
ENST00000265038.10:c.481+158_481+171delinsCACACACACACACT ENSP00000265038.6:n.481+158_481+171delinsCACACACACACACT
ENST00000497892.6:c.*279+158_*279+171delinsCACACACACACACT ENSP00000501805.1:n.*279+158_*279+171delinsCACACACACACACT
ENST00000643034.1:c.*373+158_*373+171delinsCACACACACACACT ENSP00000496080.1:n.*373+158_*373+171delinsCACACACACACACT
ENST00000643708.1:c.*311+158_*311+171delinsCACACACACACACT ENSP00000494199.1:n.*311+158_*311+171delinsCACACACACACACT
ENST00000647431.1:c.533+158_533+171delinsCACACACACACACT
ENST00000647486.1:c.432+158_432+171delinsCACACACACACACT
ENST00000675042.1:c.307+158_307+171delinsCACACACACACACT ENSP00000502082.1:n.307+158_307+171delinsCACACACACACACT
ENST00000675229.1:c.481+158_481+171delinsCACACACACACACT ENSP00000502154.1:n.481+158_481+171delinsCACACACACACACT
ENST00000675378.1:c.481+158_481+171delinsCACACACACACACT ENSP00000502535.1:n.481+158_481+171delinsCACACACACACACT
ENST00000675452.1:n.730+158_730+171delinsCACACACACACACT
ENST00000675920.1:n.1089+158_1089+171delinsCACACACACACACT
ENST00000676185.1:c.481+158_481+171delinsCACACACACACACT MANE Select ENSP00000501614.1:n.481+158_481+171delinsCACACACACACACT
ENST00000265038.9:c.481+158_481+171delinsCACACACACACACT ENSP00000265038.5:n.481+158_481+171delinsCACACACACACACT
ENST00000381118.7:c.*525+158_*525+171delinsCACACACACACACT ENSP00000370510.3:n.*525+158_*525+171delinsCACACACACACACT
ENST00000439176.5:c.307+158_307+171delinsCACACACACACACT ENSP00000408344.1:n.307+158_307+171delinsCACACACACACACT
ENST00000462279.5:n.326+158_326+171delinsCACACACACACACT
ENST00000484330.5:n.227-2126_227-2113delinsCACACACACACACT
ENST00000495985.5:n.258+154_258+167delinsCACACACACACACT
ENST00000497892.5:n.524+158_524+171delinsCACACACACACACT
NM_000082.3:c.481+158_481+171delinsCACACACACACACT , LRG_466t1:c.481+158_481+171delinsCACACACACACACT NP_000073.1:n.481+158_481+171delinsCACACACACACACT
NM_001007233.2:c.307+158_307+171delinsCACACACACACACT NP_001007234.1:n.307+158_307+171delinsCACACACACACACT
NM_001007234.2:c.481+158_481+171delinsCACACACACACACT NP_001007235.1:n.481+158_481+171delinsCACACACACACACT
NM_001290285.1:c.23-918_23-905delinsCACACACACACACT NP_001277214.1:n.23-918_23-905delinsCACACACACACACT
NM_001007234.3:c.481+158_481+171delinsCACACACACACACT NP_001007235.1:n.481+158_481+171delinsCACACACACACACT
NM_000082.4:c.481+158_481+171delinsCACACACACACACT MANE Select NP_000073.1:n.481+158_481+171delinsCACACACACACACT
NM_001007233.3:c.307+158_307+171delinsCACACACACACACT NP_001007234.1:n.307+158_307+171delinsCACACACACACACT
NM_001290285.2:c.23-918_23-905delinsCACACACACACACT NP_001277214.1:n.23-918_23-905delinsCACACACACACACT