Canonical Allele Identifier: CA2740643458

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904648_60904649insGTGTGTG , CM000667.2:g.60904648_60904649insGTGTGTG	GRCh38
NC_000005.9:g.60200475_60200476insGTGTGTG , CM000667.1:g.60200475_60200476insGTGTGTG	GRCh37
NC_000005.8:g.60236232_60236233insGTGTGTG	NCBI36
NG_009289.1:g.45430_45431insCACACAC , LRG_466:g.45430_45431insCACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+143_481+144insCACACAC	ENSP00000408344.2:n.481+143_481+144insCACACAC
ENST00000647431.2:c.582+143_582+144insCACACAC	ENSP00000494726.2:n.582+143_582+144insCACACAC
ENST00000647486.2:c.481+143_481+144insCACACAC	ENSP00000494466.2:n.481+143_481+144insCACACAC
ENST00000675042.2:c.307+143_307+144insCACACAC	ENSP00000502082.2:n.307+143_307+144insCACACAC
ENST00000675452.2:c.*446+143_*446+144insCACACAC	ENSP00000506954.1:n.*446+143_*446+144insCACACAC
ENST00000682217.1:c.481+143_481+144insCACACAC	ENSP00000507570.1:n.481+143_481+144insCACACAC
ENST00000682246.1:n.537+143_537+144insCACACAC
ENST00000682375.1:c.*311+143_*311+144insCACACAC	ENSP00000507551.1:n.*311+143_*311+144insCACACAC
ENST00000683052.1:c.283+143_283+144insCACACAC	ENSP00000507072.1:n.283+143_283+144insCACACAC
ENST00000683199.1:n.503+143_503+144insCACACAC
ENST00000683216.1:n.750+139_750+140insCACACAC
ENST00000683460.1:c.*311+143_*311+144insCACACAC	ENSP00000507820.1:n.*311+143_*311+144insCACACAC
ENST00000684394.1:n.536+143_536+144insCACACAC
ENST00000684453.1:n.531+143_531+144insCACACAC
ENST00000684621.1:n.537+143_537+144insCACACAC
ENST00000265038.10:c.481+143_481+144insCACACAC	ENSP00000265038.6:n.481+143_481+144insCACACAC
ENST00000497892.6:c.*279+143_*279+144insCACACAC	ENSP00000501805.1:n.*279+143_*279+144insCACACAC
ENST00000643034.1:c.*373+143_*373+144insCACACAC	ENSP00000496080.1:n.*373+143_*373+144insCACACAC
ENST00000643708.1:c.*311+143_*311+144insCACACAC	ENSP00000494199.1:n.*311+143_*311+144insCACACAC
ENST00000647431.1:c.533+143_533+144insCACACAC
ENST00000647486.1:c.432+143_432+144insCACACAC
ENST00000675042.1:c.307+143_307+144insCACACAC	ENSP00000502082.1:n.307+143_307+144insCACACAC
ENST00000675229.1:c.481+143_481+144insCACACAC	ENSP00000502154.1:n.481+143_481+144insCACACAC
ENST00000675378.1:c.481+143_481+144insCACACAC	ENSP00000502535.1:n.481+143_481+144insCACACAC
ENST00000675452.1:n.730+143_730+144insCACACAC
ENST00000675920.1:n.1089+143_1089+144insCACACAC
ENST00000676185.1:c.481+143_481+144insCACACAC MANE Select	ENSP00000501614.1:n.481+143_481+144insCACACAC
ENST00000265038.9:c.481+143_481+144insCACACAC	ENSP00000265038.5:n.481+143_481+144insCACACAC
ENST00000381118.7:c.*525+143_*525+144insCACACAC	ENSP00000370510.3:n.*525+143_*525+144insCACACAC
ENST00000439176.5:c.307+143_307+144insCACACAC	ENSP00000408344.1:n.307+143_307+144insCACACAC
ENST00000462279.5:n.326+143_326+144insCACACAC
ENST00000484330.5:n.227-2141_227-2140insCACACAC
ENST00000495985.5:n.258+139_258+140insCACACAC
ENST00000497892.5:n.524+143_524+144insCACACAC
NM_000082.3:c.481+143_481+144insCACACAC , LRG_466t1:c.481+143_481+144insCACACAC	NP_000073.1:n.481+143_481+144insCACACAC
NM_001007233.2:c.307+143_307+144insCACACAC	NP_001007234.1:n.307+143_307+144insCACACAC
NM_001007234.2:c.481+143_481+144insCACACAC	NP_001007235.1:n.481+143_481+144insCACACAC
NM_001290285.1:c.23-933_23-932insCACACAC	NP_001277214.1:n.23-933_23-932insCACACAC
NM_001007234.3:c.481+143_481+144insCACACAC	NP_001007235.1:n.481+143_481+144insCACACAC
NM_000082.4:c.481+143_481+144insCACACAC MANE Select	NP_000073.1:n.481+143_481+144insCACACAC
NM_001007233.3:c.307+143_307+144insCACACAC	NP_001007234.1:n.307+143_307+144insCACACAC
NM_001290285.2:c.23-933_23-932insCACACAC	NP_001277214.1:n.23-933_23-932insCACACAC