Canonical Allele Identifier: CA812732448

Gene: ERCC8

Linked Data

• dbSNP Id: rs1358016155
• MyVariant Identifiers: chr5:g.60200504_60200505insATAA (hg19) ; chr5:g.60904677_60904678insATAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904680_60904681insAATA , CM000667.2:g.60904680_60904681insAATA	GRCh38
NC_000005.9:g.60200507_60200508insAATA , CM000667.1:g.60200507_60200508insAATA	GRCh37
NC_000005.8:g.60236264_60236265insAATA	NCBI36
NG_009289.1:g.45401_45402insTTAT , LRG_466:g.45401_45402insTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+114_481+115insTTAT	ENSP00000408344.2:n.481+114_481+115insTTAT
ENST00000647431.2:c.582+114_582+115insTTAT	ENSP00000494726.2:n.582+114_582+115insTTAT
ENST00000647486.2:c.481+114_481+115insTTAT	ENSP00000494466.2:n.481+114_481+115insTTAT
ENST00000675042.2:c.307+114_307+115insTTAT	ENSP00000502082.2:n.307+114_307+115insTTAT
ENST00000675452.2:c.*446+114_*446+115insTTAT	ENSP00000506954.1:n.*446+114_*446+115insTTAT
ENST00000682217.1:c.481+114_481+115insTTAT	ENSP00000507570.1:n.481+114_481+115insTTAT
ENST00000682246.1:n.537+114_537+115insTTAT
ENST00000682375.1:c.*311+114_*311+115insTTAT	ENSP00000507551.1:n.*311+114_*311+115insTTAT
ENST00000683052.1:c.283+114_283+115insTTAT	ENSP00000507072.1:n.283+114_283+115insTTAT
ENST00000683199.1:n.503+114_503+115insTTAT
ENST00000683216.1:n.750+110_750+111insTTAT
ENST00000683460.1:c.*311+114_*311+115insTTAT	ENSP00000507820.1:n.*311+114_*311+115insTTAT
ENST00000684394.1:n.536+114_536+115insTTAT
ENST00000684453.1:n.531+114_531+115insTTAT
ENST00000684621.1:n.537+114_537+115insTTAT
ENST00000265038.10:c.481+114_481+115insTTAT	ENSP00000265038.6:n.481+114_481+115insTTAT
ENST00000497892.6:c.*279+114_*279+115insTTAT	ENSP00000501805.1:n.*279+114_*279+115insTTAT
ENST00000643034.1:c.*373+114_*373+115insTTAT	ENSP00000496080.1:n.*373+114_*373+115insTTAT
ENST00000643708.1:c.*311+114_*311+115insTTAT	ENSP00000494199.1:n.*311+114_*311+115insTTAT
ENST00000647431.1:c.533+114_533+115insTTAT
ENST00000647486.1:c.432+114_432+115insTTAT
ENST00000675042.1:c.307+114_307+115insTTAT	ENSP00000502082.1:n.307+114_307+115insTTAT
ENST00000675229.1:c.481+114_481+115insTTAT	ENSP00000502154.1:n.481+114_481+115insTTAT
ENST00000675378.1:c.481+114_481+115insTTAT	ENSP00000502535.1:n.481+114_481+115insTTAT
ENST00000675452.1:n.730+114_730+115insTTAT
ENST00000675920.1:n.1089+114_1089+115insTTAT
ENST00000676185.1:c.481+114_481+115insTTAT MANE Select	ENSP00000501614.1:n.481+114_481+115insTTAT
ENST00000265038.9:c.481+114_481+115insTTAT	ENSP00000265038.5:n.481+114_481+115insTTAT
ENST00000381118.7:c.*525+114_*525+115insTTAT	ENSP00000370510.3:n.*525+114_*525+115insTTAT
ENST00000439176.5:c.307+114_307+115insTTAT	ENSP00000408344.1:n.307+114_307+115insTTAT
ENST00000462279.5:n.326+114_326+115insTTAT
ENST00000484330.5:n.227-2170_227-2169insTTAT
ENST00000495985.5:n.258+110_258+111insTTAT
ENST00000497892.5:n.524+114_524+115insTTAT
NM_000082.3:c.481+114_481+115insTTAT , LRG_466t1:c.481+114_481+115insTTAT	NP_000073.1:n.481+114_481+115insTTAT
NM_001007233.2:c.307+114_307+115insTTAT	NP_001007234.1:n.307+114_307+115insTTAT
NM_001007234.2:c.481+114_481+115insTTAT	NP_001007235.1:n.481+114_481+115insTTAT
NM_001290285.1:c.23-962_23-961insTTAT	NP_001277214.1:n.23-962_23-961insTTAT
NM_001007234.3:c.481+114_481+115insTTAT	NP_001007235.1:n.481+114_481+115insTTAT
NM_000082.4:c.481+114_481+115insTTAT MANE Select	NP_000073.1:n.481+114_481+115insTTAT
NM_001007233.3:c.307+114_307+115insTTAT	NP_001007234.1:n.307+114_307+115insTTAT
NM_001290285.2:c.23-962_23-961insTTAT	NP_001277214.1:n.23-962_23-961insTTAT