Canonical Allele Identifier: CA1549988917

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904630_60904644delinsGTGTGTATATATATA , CM000667.2:g.60904630_60904644delinsGTGTGTATATATATA	GRCh38
NC_000005.9:g.60200457_60200471delinsGTGTGTATATATATA , CM000667.1:g.60200457_60200471delinsGTGTGTATATATATA	GRCh37
NC_000005.8:g.60236214_60236228delinsGTGTGTATATATATA	NCBI36
NG_009289.1:g.45435_45449delinsTATATATATACACAC , LRG_466:g.45435_45449delinsTATATATATACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+148_481+162delinsTATATATATACACAC	ENSP00000408344.2:n.481+148_481+162delinsTATATATATACACAC
ENST00000647431.2:c.582+148_582+162delinsTATATATATACACAC	ENSP00000494726.2:n.582+148_582+162delinsTATATATATACACAC
ENST00000647486.2:c.481+148_481+162delinsTATATATATACACAC	ENSP00000494466.2:n.481+148_481+162delinsTATATATATACACAC
ENST00000675042.2:c.307+148_307+162delinsTATATATATACACAC	ENSP00000502082.2:n.307+148_307+162delinsTATATATATACACAC
ENST00000675452.2:c.*446+148_*446+162delinsTATATATATACACAC	ENSP00000506954.1:n.*446+148_*446+162delinsTATATATATACACAC
ENST00000682217.1:c.481+148_481+162delinsTATATATATACACAC	ENSP00000507570.1:n.481+148_481+162delinsTATATATATACACAC
ENST00000682246.1:n.537+148_537+162delinsTATATATATACACAC
ENST00000682375.1:c.*311+148_*311+162delinsTATATATATACACAC	ENSP00000507551.1:n.*311+148_*311+162delinsTATATATATACACAC
ENST00000683052.1:c.283+148_283+162delinsTATATATATACACAC	ENSP00000507072.1:n.283+148_283+162delinsTATATATATACACAC
ENST00000683199.1:n.503+148_503+162delinsTATATATATACACAC
ENST00000683216.1:n.750+144_750+158delinsTATATATATACACAC
ENST00000683460.1:c.*311+148_*311+162delinsTATATATATACACAC	ENSP00000507820.1:n.*311+148_*311+162delinsTATATATATACACAC
ENST00000684394.1:n.536+148_536+162delinsTATATATATACACAC
ENST00000684453.1:n.531+148_531+162delinsTATATATATACACAC
ENST00000684621.1:n.537+148_537+162delinsTATATATATACACAC
ENST00000265038.10:c.481+148_481+162delinsTATATATATACACAC	ENSP00000265038.6:n.481+148_481+162delinsTATATATATACACAC
ENST00000497892.6:c.*279+148_*279+162delinsTATATATATACACAC	ENSP00000501805.1:n.*279+148_*279+162delinsTATATATATACACAC
ENST00000643034.1:c.*373+148_*373+162delinsTATATATATACACAC	ENSP00000496080.1:n.*373+148_*373+162delinsTATATATATACACAC
ENST00000643708.1:c.*311+148_*311+162delinsTATATATATACACAC	ENSP00000494199.1:n.*311+148_*311+162delinsTATATATATACACAC
ENST00000647431.1:c.533+148_533+162delinsTATATATATACACAC
ENST00000647486.1:c.432+148_432+162delinsTATATATATACACAC
ENST00000675042.1:c.307+148_307+162delinsTATATATATACACAC	ENSP00000502082.1:n.307+148_307+162delinsTATATATATACACAC
ENST00000675229.1:c.481+148_481+162delinsTATATATATACACAC	ENSP00000502154.1:n.481+148_481+162delinsTATATATATACACAC
ENST00000675378.1:c.481+148_481+162delinsTATATATATACACAC	ENSP00000502535.1:n.481+148_481+162delinsTATATATATACACAC
ENST00000675452.1:n.730+148_730+162delinsTATATATATACACAC
ENST00000675920.1:n.1089+148_1089+162delinsTATATATATACACAC
ENST00000676185.1:c.481+148_481+162delinsTATATATATACACAC MANE Select	ENSP00000501614.1:n.481+148_481+162delinsTATATATATACACAC
ENST00000265038.9:c.481+148_481+162delinsTATATATATACACAC	ENSP00000265038.5:n.481+148_481+162delinsTATATATATACACAC
ENST00000381118.7:c.*525+148_*525+162delinsTATATATATACACAC	ENSP00000370510.3:n.*525+148_*525+162delinsTATATATATACACAC
ENST00000439176.5:c.307+148_307+162delinsTATATATATACACAC	ENSP00000408344.1:n.307+148_307+162delinsTATATATATACACAC
ENST00000462279.5:n.326+148_326+162delinsTATATATATACACAC
ENST00000484330.5:n.227-2136_227-2122delinsTATATATATACACAC
ENST00000495985.5:n.258+144_258+158delinsTATATATATACACAC
ENST00000497892.5:n.524+148_524+162delinsTATATATATACACAC
NM_000082.3:c.481+148_481+162delinsTATATATATACACAC , LRG_466t1:c.481+148_481+162delinsTATATATATACACAC	NP_000073.1:n.481+148_481+162delinsTATATATATACACAC
NM_001007233.2:c.307+148_307+162delinsTATATATATACACAC	NP_001007234.1:n.307+148_307+162delinsTATATATATACACAC
NM_001007234.2:c.481+148_481+162delinsTATATATATACACAC	NP_001007235.1:n.481+148_481+162delinsTATATATATACACAC
NM_001290285.1:c.23-928_23-914delinsTATATATATACACAC	NP_001277214.1:n.23-928_23-914delinsTATATATATACACAC
NM_001007234.3:c.481+148_481+162delinsTATATATATACACAC	NP_001007235.1:n.481+148_481+162delinsTATATATATACACAC
NM_000082.4:c.481+148_481+162delinsTATATATATACACAC MANE Select	NP_000073.1:n.481+148_481+162delinsTATATATATACACAC
NM_001007233.3:c.307+148_307+162delinsTATATATATACACAC	NP_001007234.1:n.307+148_307+162delinsTATATATATACACAC
NM_001290285.2:c.23-928_23-914delinsTATATATATACACAC	NP_001277214.1:n.23-928_23-914delinsTATATATATACACAC