Canonical Allele Identifier: CA2831377720

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904634_60904635insGA , CM000667.2:g.60904634_60904635insGA	GRCh38
NC_000005.9:g.60200461_60200462insGA , CM000667.1:g.60200461_60200462insGA	GRCh37
NC_000005.8:g.60236218_60236219insGA	NCBI36
NG_009289.1:g.45444_45445insTC , LRG_466:g.45444_45445insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+157_481+158insTC	ENSP00000408344.2:n.481+157_481+158insTC
ENST00000647431.2:c.582+157_582+158insTC	ENSP00000494726.2:n.582+157_582+158insTC
ENST00000647486.2:c.481+157_481+158insTC	ENSP00000494466.2:n.481+157_481+158insTC
ENST00000675042.2:c.307+157_307+158insTC	ENSP00000502082.2:n.307+157_307+158insTC
ENST00000675452.2:c.*446+157_*446+158insTC	ENSP00000506954.1:n.*446+157_*446+158insTC
ENST00000682217.1:c.481+157_481+158insTC	ENSP00000507570.1:n.481+157_481+158insTC
ENST00000682246.1:n.537+157_537+158insTC
ENST00000682375.1:c.*311+157_*311+158insTC	ENSP00000507551.1:n.*311+157_*311+158insTC
ENST00000683052.1:c.283+157_283+158insTC	ENSP00000507072.1:n.283+157_283+158insTC
ENST00000683199.1:n.503+157_503+158insTC
ENST00000683216.1:n.750+153_750+154insTC
ENST00000683460.1:c.*311+157_*311+158insTC	ENSP00000507820.1:n.*311+157_*311+158insTC
ENST00000684394.1:n.536+157_536+158insTC
ENST00000684453.1:n.531+157_531+158insTC
ENST00000684621.1:n.537+157_537+158insTC
ENST00000265038.10:c.481+157_481+158insTC	ENSP00000265038.6:n.481+157_481+158insTC
ENST00000497892.6:c.*279+157_*279+158insTC	ENSP00000501805.1:n.*279+157_*279+158insTC
ENST00000643034.1:c.*373+157_*373+158insTC	ENSP00000496080.1:n.*373+157_*373+158insTC
ENST00000643708.1:c.*311+157_*311+158insTC	ENSP00000494199.1:n.*311+157_*311+158insTC
ENST00000647431.1:c.533+157_533+158insTC
ENST00000647486.1:c.432+157_432+158insTC
ENST00000675042.1:c.307+157_307+158insTC	ENSP00000502082.1:n.307+157_307+158insTC
ENST00000675229.1:c.481+157_481+158insTC	ENSP00000502154.1:n.481+157_481+158insTC
ENST00000675378.1:c.481+157_481+158insTC	ENSP00000502535.1:n.481+157_481+158insTC
ENST00000675452.1:n.730+157_730+158insTC
ENST00000675920.1:n.1089+157_1089+158insTC
ENST00000676185.1:c.481+157_481+158insTC MANE Select	ENSP00000501614.1:n.481+157_481+158insTC
ENST00000265038.9:c.481+157_481+158insTC	ENSP00000265038.5:n.481+157_481+158insTC
ENST00000381118.7:c.*525+157_*525+158insTC	ENSP00000370510.3:n.*525+157_*525+158insTC
ENST00000439176.5:c.307+157_307+158insTC	ENSP00000408344.1:n.307+157_307+158insTC
ENST00000462279.5:n.326+157_326+158insTC
ENST00000484330.5:n.227-2127_227-2126insTC
ENST00000495985.5:n.258+153_258+154insTC
ENST00000497892.5:n.524+157_524+158insTC
NM_000082.3:c.481+157_481+158insTC , LRG_466t1:c.481+157_481+158insTC	NP_000073.1:n.481+157_481+158insTC
NM_001007233.2:c.307+157_307+158insTC	NP_001007234.1:n.307+157_307+158insTC
NM_001007234.2:c.481+157_481+158insTC	NP_001007235.1:n.481+157_481+158insTC
NM_001290285.1:c.23-919_23-918insTC	NP_001277214.1:n.23-919_23-918insTC
NM_001007234.3:c.481+157_481+158insTC	NP_001007235.1:n.481+157_481+158insTC
NM_000082.4:c.481+157_481+158insTC MANE Select	NP_000073.1:n.481+157_481+158insTC
NM_001007233.3:c.307+157_307+158insTC	NP_001007234.1:n.307+157_307+158insTC
NM_001290285.2:c.23-919_23-918insTC	NP_001277214.1:n.23-919_23-918insTC