Canonical Allele Identifier: CA2673964979

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904657-T-TGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904657_60904658insGTC , CM000667.2:g.60904657_60904658insGTC	GRCh38
NC_000005.9:g.60200484_60200485insGTC , CM000667.1:g.60200484_60200485insGTC	GRCh37
NC_000005.8:g.60236241_60236242insGTC	NCBI36
NG_009289.1:g.45421_45422insGAC , LRG_466:g.45421_45422insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+134_481+135insGAC	ENSP00000408344.2:n.481+134_481+135insGAC
ENST00000647431.2:c.582+134_582+135insGAC	ENSP00000494726.2:n.582+134_582+135insGAC
ENST00000647486.2:c.481+134_481+135insGAC	ENSP00000494466.2:n.481+134_481+135insGAC
ENST00000675042.2:c.307+134_307+135insGAC	ENSP00000502082.2:n.307+134_307+135insGAC
ENST00000675452.2:c.*446+134_*446+135insGAC	ENSP00000506954.1:n.*446+134_*446+135insGAC
ENST00000682217.1:c.481+134_481+135insGAC	ENSP00000507570.1:n.481+134_481+135insGAC
ENST00000682246.1:n.537+134_537+135insGAC
ENST00000682375.1:c.*311+134_*311+135insGAC	ENSP00000507551.1:n.*311+134_*311+135insGAC
ENST00000683052.1:c.283+134_283+135insGAC	ENSP00000507072.1:n.283+134_283+135insGAC
ENST00000683199.1:n.503+134_503+135insGAC
ENST00000683216.1:n.750+130_750+131insGAC
ENST00000683460.1:c.*311+134_*311+135insGAC	ENSP00000507820.1:n.*311+134_*311+135insGAC
ENST00000684394.1:n.536+134_536+135insGAC
ENST00000684453.1:n.531+134_531+135insGAC
ENST00000684621.1:n.537+134_537+135insGAC
ENST00000265038.10:c.481+134_481+135insGAC	ENSP00000265038.6:n.481+134_481+135insGAC
ENST00000497892.6:c.*279+134_*279+135insGAC	ENSP00000501805.1:n.*279+134_*279+135insGAC
ENST00000643034.1:c.*373+134_*373+135insGAC	ENSP00000496080.1:n.*373+134_*373+135insGAC
ENST00000643708.1:c.*311+134_*311+135insGAC	ENSP00000494199.1:n.*311+134_*311+135insGAC
ENST00000647431.1:c.533+134_533+135insGAC
ENST00000647486.1:c.432+134_432+135insGAC
ENST00000675042.1:c.307+134_307+135insGAC	ENSP00000502082.1:n.307+134_307+135insGAC
ENST00000675229.1:c.481+134_481+135insGAC	ENSP00000502154.1:n.481+134_481+135insGAC
ENST00000675378.1:c.481+134_481+135insGAC	ENSP00000502535.1:n.481+134_481+135insGAC
ENST00000675452.1:n.730+134_730+135insGAC
ENST00000675920.1:n.1089+134_1089+135insGAC
ENST00000676185.1:c.481+134_481+135insGAC MANE Select	ENSP00000501614.1:n.481+134_481+135insGAC
ENST00000265038.9:c.481+134_481+135insGAC	ENSP00000265038.5:n.481+134_481+135insGAC
ENST00000381118.7:c.*525+134_*525+135insGAC	ENSP00000370510.3:n.*525+134_*525+135insGAC
ENST00000439176.5:c.307+134_307+135insGAC	ENSP00000408344.1:n.307+134_307+135insGAC
ENST00000462279.5:n.326+134_326+135insGAC
ENST00000484330.5:n.227-2150_227-2149insGAC
ENST00000495985.5:n.258+130_258+131insGAC
ENST00000497892.5:n.524+134_524+135insGAC
NM_000082.3:c.481+134_481+135insGAC , LRG_466t1:c.481+134_481+135insGAC	NP_000073.1:n.481+134_481+135insGAC
NM_001007233.2:c.307+134_307+135insGAC	NP_001007234.1:n.307+134_307+135insGAC
NM_001007234.2:c.481+134_481+135insGAC	NP_001007235.1:n.481+134_481+135insGAC
NM_001290285.1:c.23-942_23-941insGAC	NP_001277214.1:n.23-942_23-941insGAC
NM_001007234.3:c.481+134_481+135insGAC	NP_001007235.1:n.481+134_481+135insGAC
NM_000082.4:c.481+134_481+135insGAC MANE Select	NP_000073.1:n.481+134_481+135insGAC
NM_001007233.3:c.307+134_307+135insGAC	NP_001007234.1:n.307+134_307+135insGAC
NM_001290285.2:c.23-942_23-941insGAC	NP_001277214.1:n.23-942_23-941insGAC