Canonical Allele Identifier: CA1549988912

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904630_60904670delinsGTGTGTATATATATATATATATATATATATATATATATATA , CM000667.2:g.60904630_60904670delinsGTGTGTATATATATATATATATATATATATATATATATATA	GRCh38
NC_000005.9:g.60200457_60200497delinsGTGTGTATATATATATATATATATATATATATATATATATA , CM000667.1:g.60200457_60200497delinsGTGTGTATATATATATATATATATATATATATATATATATA	GRCh37
NC_000005.8:g.60236214_60236254delinsGTGTGTATATATATATATATATATATATATATATATATATA	NCBI36
NG_009289.1:g.45409_45449delinsTATATATATATATATATATATATATATATATATATACACAC , LRG_466:g.45409_45449delinsTATATATATATATATATATATATATATATATATATACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000408344.2:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000647431.2:c.582+122_582+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000494726.2:n.582+122_582+162delinsTATATATATATATATATATA...
ENST00000647486.2:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000494466.2:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000675042.2:c.307+122_307+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000502082.2:n.307+122_307+162delinsTATATATATATATATATATA...
ENST00000675452.2:c.*446+122_*446+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000506954.1:n.*446+122_*446+162delinsTATATATATATATATATA...
ENST00000682217.1:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000507570.1:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000682246.1:n.537+122_537+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000682375.1:c.*311+122_*311+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000507551.1:n.*311+122_*311+162delinsTATATATATATATATATA...
ENST00000683052.1:c.283+122_283+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000507072.1:n.283+122_283+162delinsTATATATATATATATATATA...
ENST00000683199.1:n.503+122_503+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000683216.1:n.750+118_750+158delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000683460.1:c.*311+122_*311+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000507820.1:n.*311+122_*311+162delinsTATATATATATATATATA...
ENST00000684394.1:n.536+122_536+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000684453.1:n.531+122_531+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000684621.1:n.537+122_537+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000265038.10:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000265038.6:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000497892.6:c.*279+122_*279+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000501805.1:n.*279+122_*279+162delinsTATATATATATATATATA...
ENST00000643034.1:c.*373+122_*373+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000496080.1:n.*373+122_*373+162delinsTATATATATATATATATA...
ENST00000643708.1:c.*311+122_*311+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000494199.1:n.*311+122_*311+162delinsTATATATATATATATATA...
ENST00000647431.1:c.533+122_533+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000647486.1:c.432+122_432+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000675042.1:c.307+122_307+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000502082.1:n.307+122_307+162delinsTATATATATATATATATATA...
ENST00000675229.1:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000502154.1:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000675378.1:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000502535.1:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000675452.1:n.730+122_730+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000675920.1:n.1089+122_1089+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000676185.1:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC MANE Select	ENSP00000501614.1:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000265038.9:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000265038.5:n.481+122_481+162delinsTATATATATATATATATATA...
ENST00000381118.7:c.*525+122_*525+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000370510.3:n.*525+122_*525+162delinsTATATATATATATATATA...
ENST00000439176.5:c.307+122_307+162delinsTATATATATATATATATATATATATATATATATATACACAC	ENSP00000408344.1:n.307+122_307+162delinsTATATATATATATATATATA...
ENST00000462279.5:n.326+122_326+162delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000484330.5:n.227-2162_227-2122delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000495985.5:n.258+118_258+158delinsTATATATATATATATATATATATATATATATATATACACAC
ENST00000497892.5:n.524+122_524+162delinsTATATATATATATATATATATATATATATATATATACACAC
NM_000082.3:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC , LRG_466t1:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	NP_000073.1:n.481+122_481+162delinsTATATATATATATATATATATATATA...
NM_001007233.2:c.307+122_307+162delinsTATATATATATATATATATATATATATATATATATACACAC	NP_001007234.1:n.307+122_307+162delinsTATATATATATATATATATATAT...
NM_001007234.2:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	NP_001007235.1:n.481+122_481+162delinsTATATATATATATATATATATAT...
NM_001290285.1:c.23-954_23-914delinsTATATATATATATATATATATATATATATATATATACACAC	NP_001277214.1:n.23-954_23-914delinsTATATATATATATATATATATATAT...
NM_001007234.3:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC	NP_001007235.1:n.481+122_481+162delinsTATATATATATATATATATATAT...
NM_000082.4:c.481+122_481+162delinsTATATATATATATATATATATATATATATATATATACACAC MANE Select	NP_000073.1:n.481+122_481+162delinsTATATATATATATATATATATATATA...
NM_001007233.3:c.307+122_307+162delinsTATATATATATATATATATATATATATATATATATACACAC	NP_001007234.1:n.307+122_307+162delinsTATATATATATATATATATATAT...
NM_001290285.2:c.23-954_23-914delinsTATATATATATATATATATATATATATATATATATACACAC	NP_001277214.1:n.23-954_23-914delinsTATATATATATATATATATATATAT...