Canonical Allele Identifier: CA1076601556

Gene: ERCC8

Linked Data

• dbSNP Id: rs1749012919
• gnomAD v4: 5-60904660-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904661_60904662insGT , CM000667.2:g.60904661_60904662insGT	GRCh38
NC_000005.9:g.60200488_60200489insGT , CM000667.1:g.60200488_60200489insGT	GRCh37
NC_000005.8:g.60236245_60236246insGT	NCBI36
NG_009289.1:g.45418_45419insCA , LRG_466:g.45418_45419insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+131_481+132insCA	ENSP00000408344.2:n.481+131_481+132insCA
ENST00000647431.2:c.582+131_582+132insCA	ENSP00000494726.2:n.582+131_582+132insCA
ENST00000647486.2:c.481+131_481+132insCA	ENSP00000494466.2:n.481+131_481+132insCA
ENST00000675042.2:c.307+131_307+132insCA	ENSP00000502082.2:n.307+131_307+132insCA
ENST00000675452.2:c.*446+131_*446+132insCA	ENSP00000506954.1:n.*446+131_*446+132insCA
ENST00000682217.1:c.481+131_481+132insCA	ENSP00000507570.1:n.481+131_481+132insCA
ENST00000682246.1:n.537+131_537+132insCA
ENST00000682375.1:c.*311+131_*311+132insCA	ENSP00000507551.1:n.*311+131_*311+132insCA
ENST00000683052.1:c.283+131_283+132insCA	ENSP00000507072.1:n.283+131_283+132insCA
ENST00000683199.1:n.503+131_503+132insCA
ENST00000683216.1:n.750+127_750+128insCA
ENST00000683460.1:c.*311+131_*311+132insCA	ENSP00000507820.1:n.*311+131_*311+132insCA
ENST00000684394.1:n.536+131_536+132insCA
ENST00000684453.1:n.531+131_531+132insCA
ENST00000684621.1:n.537+131_537+132insCA
ENST00000265038.10:c.481+131_481+132insCA	ENSP00000265038.6:n.481+131_481+132insCA
ENST00000497892.6:c.*279+131_*279+132insCA	ENSP00000501805.1:n.*279+131_*279+132insCA
ENST00000643034.1:c.*373+131_*373+132insCA	ENSP00000496080.1:n.*373+131_*373+132insCA
ENST00000643708.1:c.*311+131_*311+132insCA	ENSP00000494199.1:n.*311+131_*311+132insCA
ENST00000647431.1:c.533+131_533+132insCA
ENST00000647486.1:c.432+131_432+132insCA
ENST00000675042.1:c.307+131_307+132insCA	ENSP00000502082.1:n.307+131_307+132insCA
ENST00000675229.1:c.481+131_481+132insCA	ENSP00000502154.1:n.481+131_481+132insCA
ENST00000675378.1:c.481+131_481+132insCA	ENSP00000502535.1:n.481+131_481+132insCA
ENST00000675452.1:n.730+131_730+132insCA
ENST00000675920.1:n.1089+131_1089+132insCA
ENST00000676185.1:c.481+131_481+132insCA MANE Select	ENSP00000501614.1:n.481+131_481+132insCA
ENST00000265038.9:c.481+131_481+132insCA	ENSP00000265038.5:n.481+131_481+132insCA
ENST00000381118.7:c.*525+131_*525+132insCA	ENSP00000370510.3:n.*525+131_*525+132insCA
ENST00000439176.5:c.307+131_307+132insCA	ENSP00000408344.1:n.307+131_307+132insCA
ENST00000462279.5:n.326+131_326+132insCA
ENST00000484330.5:n.227-2153_227-2152insCA
ENST00000495985.5:n.258+127_258+128insCA
ENST00000497892.5:n.524+131_524+132insCA
NM_000082.3:c.481+131_481+132insCA , LRG_466t1:c.481+131_481+132insCA	NP_000073.1:n.481+131_481+132insCA
NM_001007233.2:c.307+131_307+132insCA	NP_001007234.1:n.307+131_307+132insCA
NM_001007234.2:c.481+131_481+132insCA	NP_001007235.1:n.481+131_481+132insCA
NM_001290285.1:c.23-945_23-944insCA	NP_001277214.1:n.23-945_23-944insCA
NM_001007234.3:c.481+131_481+132insCA	NP_001007235.1:n.481+131_481+132insCA
NM_000082.4:c.481+131_481+132insCA MANE Select	NP_000073.1:n.481+131_481+132insCA
NM_001007233.3:c.307+131_307+132insCA	NP_001007234.1:n.307+131_307+132insCA
NM_001290285.2:c.23-945_23-944insCA	NP_001277214.1:n.23-945_23-944insCA