Canonical Allele Identifier: CA2673964983

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904658-A-AAAATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904658_60904659insAAATTG , CM000667.2:g.60904658_60904659insAAATTG	GRCh38
NC_000005.9:g.60200485_60200486insAAATTG , CM000667.1:g.60200485_60200486insAAATTG	GRCh37
NC_000005.8:g.60236242_60236243insAAATTG	NCBI36
NG_009289.1:g.45420_45421insCAATTT , LRG_466:g.45420_45421insCAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+133_481+134insCAATTT	ENSP00000408344.2:n.481+133_481+134insCAATTT
ENST00000647431.2:c.582+133_582+134insCAATTT	ENSP00000494726.2:n.582+133_582+134insCAATTT
ENST00000647486.2:c.481+133_481+134insCAATTT	ENSP00000494466.2:n.481+133_481+134insCAATTT
ENST00000675042.2:c.307+133_307+134insCAATTT	ENSP00000502082.2:n.307+133_307+134insCAATTT
ENST00000675452.2:c.*446+133_*446+134insCAATTT	ENSP00000506954.1:n.*446+133_*446+134insCAATTT
ENST00000682217.1:c.481+133_481+134insCAATTT	ENSP00000507570.1:n.481+133_481+134insCAATTT
ENST00000682246.1:n.537+133_537+134insCAATTT
ENST00000682375.1:c.*311+133_*311+134insCAATTT	ENSP00000507551.1:n.*311+133_*311+134insCAATTT
ENST00000683052.1:c.283+133_283+134insCAATTT	ENSP00000507072.1:n.283+133_283+134insCAATTT
ENST00000683199.1:n.503+133_503+134insCAATTT
ENST00000683216.1:n.750+129_750+130insCAATTT
ENST00000683460.1:c.*311+133_*311+134insCAATTT	ENSP00000507820.1:n.*311+133_*311+134insCAATTT
ENST00000684394.1:n.536+133_536+134insCAATTT
ENST00000684453.1:n.531+133_531+134insCAATTT
ENST00000684621.1:n.537+133_537+134insCAATTT
ENST00000265038.10:c.481+133_481+134insCAATTT	ENSP00000265038.6:n.481+133_481+134insCAATTT
ENST00000497892.6:c.*279+133_*279+134insCAATTT	ENSP00000501805.1:n.*279+133_*279+134insCAATTT
ENST00000643034.1:c.*373+133_*373+134insCAATTT	ENSP00000496080.1:n.*373+133_*373+134insCAATTT
ENST00000643708.1:c.*311+133_*311+134insCAATTT	ENSP00000494199.1:n.*311+133_*311+134insCAATTT
ENST00000647431.1:c.533+133_533+134insCAATTT
ENST00000647486.1:c.432+133_432+134insCAATTT
ENST00000675042.1:c.307+133_307+134insCAATTT	ENSP00000502082.1:n.307+133_307+134insCAATTT
ENST00000675229.1:c.481+133_481+134insCAATTT	ENSP00000502154.1:n.481+133_481+134insCAATTT
ENST00000675378.1:c.481+133_481+134insCAATTT	ENSP00000502535.1:n.481+133_481+134insCAATTT
ENST00000675452.1:n.730+133_730+134insCAATTT
ENST00000675920.1:n.1089+133_1089+134insCAATTT
ENST00000676185.1:c.481+133_481+134insCAATTT MANE Select	ENSP00000501614.1:n.481+133_481+134insCAATTT
ENST00000265038.9:c.481+133_481+134insCAATTT	ENSP00000265038.5:n.481+133_481+134insCAATTT
ENST00000381118.7:c.*525+133_*525+134insCAATTT	ENSP00000370510.3:n.*525+133_*525+134insCAATTT
ENST00000439176.5:c.307+133_307+134insCAATTT	ENSP00000408344.1:n.307+133_307+134insCAATTT
ENST00000462279.5:n.326+133_326+134insCAATTT
ENST00000484330.5:n.227-2151_227-2150insCAATTT
ENST00000495985.5:n.258+129_258+130insCAATTT
ENST00000497892.5:n.524+133_524+134insCAATTT
NM_000082.3:c.481+133_481+134insCAATTT , LRG_466t1:c.481+133_481+134insCAATTT	NP_000073.1:n.481+133_481+134insCAATTT
NM_001007233.2:c.307+133_307+134insCAATTT	NP_001007234.1:n.307+133_307+134insCAATTT
NM_001007234.2:c.481+133_481+134insCAATTT	NP_001007235.1:n.481+133_481+134insCAATTT
NM_001290285.1:c.23-943_23-942insCAATTT	NP_001277214.1:n.23-943_23-942insCAATTT
NM_001007234.3:c.481+133_481+134insCAATTT	NP_001007235.1:n.481+133_481+134insCAATTT
NM_000082.4:c.481+133_481+134insCAATTT MANE Select	NP_000073.1:n.481+133_481+134insCAATTT
NM_001007233.3:c.307+133_307+134insCAATTT	NP_001007234.1:n.307+133_307+134insCAATTT
NM_001290285.2:c.23-943_23-942insCAATTT	NP_001277214.1:n.23-943_23-942insCAATTT