Canonical Allele Identifier: CA1076601529

Gene: ERCC8

Linked Data

• dbSNP Id: rs1749010216
• gnomAD v3: 5-60904640-A-ATATATATATT
• gnomAD v4: 5-60904640-A-ATATATATATT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904649_60904650insTTATATATAT , CM000667.2:g.60904649_60904650insTTATATATAT	GRCh38
NC_000005.9:g.60200476_60200477insTTATATATAT , CM000667.1:g.60200476_60200477insTTATATATAT	GRCh37
NC_000005.8:g.60236233_60236234insTTATATATAT	NCBI36
NG_009289.1:g.45438_45439insAATATATATA , LRG_466:g.45438_45439insAATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+151_481+152insAATATATATA	ENSP00000408344.2:n.481+151_481+152insAATATATATA
ENST00000647431.2:c.582+151_582+152insAATATATATA	ENSP00000494726.2:n.582+151_582+152insAATATATATA
ENST00000647486.2:c.481+151_481+152insAATATATATA	ENSP00000494466.2:n.481+151_481+152insAATATATATA
ENST00000675042.2:c.307+151_307+152insAATATATATA	ENSP00000502082.2:n.307+151_307+152insAATATATATA
ENST00000675452.2:c.*446+151_*446+152insAATATATATA	ENSP00000506954.1:n.*446+151_*446+152insAATATATATA
ENST00000682217.1:c.481+151_481+152insAATATATATA	ENSP00000507570.1:n.481+151_481+152insAATATATATA
ENST00000682246.1:n.537+151_537+152insAATATATATA
ENST00000682375.1:c.*311+151_*311+152insAATATATATA	ENSP00000507551.1:n.*311+151_*311+152insAATATATATA
ENST00000683052.1:c.283+151_283+152insAATATATATA	ENSP00000507072.1:n.283+151_283+152insAATATATATA
ENST00000683199.1:n.503+151_503+152insAATATATATA
ENST00000683216.1:n.750+147_750+148insAATATATATA
ENST00000683460.1:c.*311+151_*311+152insAATATATATA	ENSP00000507820.1:n.*311+151_*311+152insAATATATATA
ENST00000684394.1:n.536+151_536+152insAATATATATA
ENST00000684453.1:n.531+151_531+152insAATATATATA
ENST00000684621.1:n.537+151_537+152insAATATATATA
ENST00000265038.10:c.481+151_481+152insAATATATATA	ENSP00000265038.6:n.481+151_481+152insAATATATATA
ENST00000497892.6:c.*279+151_*279+152insAATATATATA	ENSP00000501805.1:n.*279+151_*279+152insAATATATATA
ENST00000643034.1:c.*373+151_*373+152insAATATATATA	ENSP00000496080.1:n.*373+151_*373+152insAATATATATA
ENST00000643708.1:c.*311+151_*311+152insAATATATATA	ENSP00000494199.1:n.*311+151_*311+152insAATATATATA
ENST00000647431.1:c.533+151_533+152insAATATATATA
ENST00000647486.1:c.432+151_432+152insAATATATATA
ENST00000675042.1:c.307+151_307+152insAATATATATA	ENSP00000502082.1:n.307+151_307+152insAATATATATA
ENST00000675229.1:c.481+151_481+152insAATATATATA	ENSP00000502154.1:n.481+151_481+152insAATATATATA
ENST00000675378.1:c.481+151_481+152insAATATATATA	ENSP00000502535.1:n.481+151_481+152insAATATATATA
ENST00000675452.1:n.730+151_730+152insAATATATATA
ENST00000675920.1:n.1089+151_1089+152insAATATATATA
ENST00000676185.1:c.481+151_481+152insAATATATATA MANE Select	ENSP00000501614.1:n.481+151_481+152insAATATATATA
ENST00000265038.9:c.481+151_481+152insAATATATATA	ENSP00000265038.5:n.481+151_481+152insAATATATATA
ENST00000381118.7:c.*525+151_*525+152insAATATATATA	ENSP00000370510.3:n.*525+151_*525+152insAATATATATA
ENST00000439176.5:c.307+151_307+152insAATATATATA	ENSP00000408344.1:n.307+151_307+152insAATATATATA
ENST00000462279.5:n.326+151_326+152insAATATATATA
ENST00000484330.5:n.227-2133_227-2132insAATATATATA
ENST00000495985.5:n.258+147_258+148insAATATATATA
ENST00000497892.5:n.524+151_524+152insAATATATATA
NM_000082.3:c.481+151_481+152insAATATATATA , LRG_466t1:c.481+151_481+152insAATATATATA	NP_000073.1:n.481+151_481+152insAATATATATA
NM_001007233.2:c.307+151_307+152insAATATATATA	NP_001007234.1:n.307+151_307+152insAATATATATA
NM_001007234.2:c.481+151_481+152insAATATATATA	NP_001007235.1:n.481+151_481+152insAATATATATA
NM_001290285.1:c.23-925_23-924insAATATATATA	NP_001277214.1:n.23-925_23-924insAATATATATA
NM_001007234.3:c.481+151_481+152insAATATATATA	NP_001007235.1:n.481+151_481+152insAATATATATA
NM_000082.4:c.481+151_481+152insAATATATATA MANE Select	NP_000073.1:n.481+151_481+152insAATATATATA
NM_001007233.3:c.307+151_307+152insAATATATATA	NP_001007234.1:n.307+151_307+152insAATATATATA
NM_001290285.2:c.23-925_23-924insAATATATATA	NP_001277214.1:n.23-925_23-924insAATATATATA