Canonical Allele Identifier: CA1549989069

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904737_60904738delinsTA , CM000667.2:g.60904737_60904738delinsTA	GRCh38
NC_000005.9:g.60200564_60200565delinsTA , CM000667.1:g.60200564_60200565delinsTA	GRCh37
NC_000005.8:g.60236321_60236322delinsTA	NCBI36
NG_009289.1:g.45341_45342delinsTA , LRG_466:g.45341_45342delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+54_481+55delinsTA	ENSP00000408344.2:n.481+54_481+55delinsTA
ENST00000647431.2:c.582+54_582+55delinsTA	ENSP00000494726.2:n.582+54_582+55delinsTA
ENST00000647486.2:c.481+54_481+55delinsTA	ENSP00000494466.2:n.481+54_481+55delinsTA
ENST00000675042.2:c.307+54_307+55delinsTA	ENSP00000502082.2:n.307+54_307+55delinsTA
ENST00000675452.2:c.*446+54_*446+55delinsTA	ENSP00000506954.1:n.*446+54_*446+55delinsTA
ENST00000682217.1:c.481+54_481+55delinsTA	ENSP00000507570.1:n.481+54_481+55delinsTA
ENST00000682246.1:n.537+54_537+55delinsTA
ENST00000682375.1:c.*311+54_*311+55delinsTA	ENSP00000507551.1:n.*311+54_*311+55delinsTA
ENST00000683052.1:c.283+54_283+55delinsTA	ENSP00000507072.1:n.283+54_283+55delinsTA
ENST00000683199.1:n.503+54_503+55delinsTA
ENST00000683216.1:n.750+50_750+51delinsTA
ENST00000683460.1:c.*311+54_*311+55delinsTA	ENSP00000507820.1:n.*311+54_*311+55delinsTA
ENST00000684394.1:n.536+54_536+55delinsTA
ENST00000684453.1:n.531+54_531+55delinsTA
ENST00000684621.1:n.537+54_537+55delinsTA
ENST00000265038.10:c.481+54_481+55delinsTA	ENSP00000265038.6:n.481+54_481+55delinsTA
ENST00000497892.6:c.*279+54_*279+55delinsTA	ENSP00000501805.1:n.*279+54_*279+55delinsTA
ENST00000643034.1:c.*373+54_*373+55delinsTA	ENSP00000496080.1:n.*373+54_*373+55delinsTA
ENST00000643708.1:c.*311+54_*311+55delinsTA	ENSP00000494199.1:n.*311+54_*311+55delinsTA
ENST00000647431.1:c.533+54_533+55delinsTA
ENST00000647486.1:c.432+54_432+55delinsTA
ENST00000675042.1:c.307+54_307+55delinsTA	ENSP00000502082.1:n.307+54_307+55delinsTA
ENST00000675229.1:c.481+54_481+55delinsTA	ENSP00000502154.1:n.481+54_481+55delinsTA
ENST00000675378.1:c.481+54_481+55delinsTA	ENSP00000502535.1:n.481+54_481+55delinsTA
ENST00000675452.1:n.730+54_730+55delinsTA
ENST00000675920.1:n.1089+54_1089+55delinsTA
ENST00000676185.1:c.481+54_481+55delinsTA MANE Select	ENSP00000501614.1:n.481+54_481+55delinsTA
ENST00000265038.9:c.481+54_481+55delinsTA	ENSP00000265038.5:n.481+54_481+55delinsTA
ENST00000381118.7:c.*525+54_*525+55delinsTA	ENSP00000370510.3:n.*525+54_*525+55delinsTA
ENST00000439176.5:c.307+54_307+55delinsTA	ENSP00000408344.1:n.307+54_307+55delinsTA
ENST00000462279.5:n.326+54_326+55delinsTA
ENST00000484330.5:n.227-2230_227-2229delinsTA
ENST00000495985.5:n.258+50_258+51delinsTA
ENST00000497892.5:n.524+54_524+55delinsTA
NM_000082.3:c.481+54_481+55delinsTA , LRG_466t1:c.481+54_481+55delinsTA	NP_000073.1:n.481+54_481+55delinsTA
NM_001007233.2:c.307+54_307+55delinsTA	NP_001007234.1:n.307+54_307+55delinsTA
NM_001007234.2:c.481+54_481+55delinsTA	NP_001007235.1:n.481+54_481+55delinsTA
NM_001290285.1:c.23-1022_23-1021delinsTA	NP_001277214.1:n.23-1022_23-1021delinsTA
NM_001007234.3:c.481+54_481+55delinsTA	NP_001007235.1:n.481+54_481+55delinsTA
NM_000082.4:c.481+54_481+55delinsTA MANE Select	NP_000073.1:n.481+54_481+55delinsTA
NM_001007233.3:c.307+54_307+55delinsTA	NP_001007234.1:n.307+54_307+55delinsTA
NM_001290285.2:c.23-1022_23-1021delinsTA	NP_001277214.1:n.23-1022_23-1021delinsTA