Canonical Allele Identifier: CA2673964976

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904655-TATATATATATATATATATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904656_60904674del , CM000667.2:g.60904656_60904674del	GRCh38
NC_000005.9:g.60200483_60200501del , CM000667.1:g.60200483_60200501del	GRCh37
NC_000005.8:g.60236240_60236258del	NCBI36
NG_009289.1:g.45405_45423del , LRG_466:g.45405_45423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+118_481+136del	ENSP00000408344.2:n.481+118_481+136del
ENST00000647431.2:c.582+118_582+136del	ENSP00000494726.2:n.582+118_582+136del
ENST00000647486.2:c.481+118_481+136del	ENSP00000494466.2:n.481+118_481+136del
ENST00000675042.2:c.307+118_307+136del	ENSP00000502082.2:n.307+118_307+136del
ENST00000675452.2:c.*446+118_*446+136del	ENSP00000506954.1:n.*446+118_*446+136del
ENST00000682217.1:c.481+118_481+136del	ENSP00000507570.1:n.481+118_481+136del
ENST00000682246.1:n.537+118_537+136del
ENST00000682375.1:c.*311+118_*311+136del	ENSP00000507551.1:n.*311+118_*311+136del
ENST00000683052.1:c.283+118_283+136del	ENSP00000507072.1:n.283+118_283+136del
ENST00000683199.1:n.503+118_503+136del
ENST00000683216.1:n.750+114_750+132del
ENST00000683460.1:c.*311+118_*311+136del	ENSP00000507820.1:n.*311+118_*311+136del
ENST00000684394.1:n.536+118_536+136del
ENST00000684453.1:n.531+118_531+136del
ENST00000684621.1:n.537+118_537+136del
ENST00000265038.10:c.481+118_481+136del	ENSP00000265038.6:n.481+118_481+136del
ENST00000497892.6:c.*279+118_*279+136del	ENSP00000501805.1:n.*279+118_*279+136del
ENST00000643034.1:c.*373+118_*373+136del	ENSP00000496080.1:n.*373+118_*373+136del
ENST00000643708.1:c.*311+118_*311+136del	ENSP00000494199.1:n.*311+118_*311+136del
ENST00000647431.1:c.533+118_533+136del
ENST00000647486.1:c.432+118_432+136del
ENST00000675042.1:c.307+118_307+136del	ENSP00000502082.1:n.307+118_307+136del
ENST00000675229.1:c.481+118_481+136del	ENSP00000502154.1:n.481+118_481+136del
ENST00000675378.1:c.481+118_481+136del	ENSP00000502535.1:n.481+118_481+136del
ENST00000675452.1:n.730+118_730+136del
ENST00000675920.1:n.1089+118_1089+136del
ENST00000676185.1:c.481+118_481+136del MANE Select	ENSP00000501614.1:n.481+118_481+136del
ENST00000265038.9:c.481+118_481+136del	ENSP00000265038.5:n.481+118_481+136del
ENST00000381118.7:c.*525+118_*525+136del	ENSP00000370510.3:n.*525+118_*525+136del
ENST00000439176.5:c.307+118_307+136del	ENSP00000408344.1:n.307+118_307+136del
ENST00000462279.5:n.326+118_326+136del
ENST00000484330.5:n.227-2166_227-2148del
ENST00000495985.5:n.258+114_258+132del
ENST00000497892.5:n.524+118_524+136del
NM_000082.3:c.481+118_481+136del , LRG_466t1:c.481+118_481+136del	NP_000073.1:n.481+118_481+136del
NM_001007233.2:c.307+118_307+136del	NP_001007234.1:n.307+118_307+136del
NM_001007234.2:c.481+118_481+136del	NP_001007235.1:n.481+118_481+136del
NM_001290285.1:c.23-958_23-940del	NP_001277214.1:n.23-958_23-940del
NM_001007234.3:c.481+118_481+136del	NP_001007235.1:n.481+118_481+136del
NM_000082.4:c.481+118_481+136del MANE Select	NP_000073.1:n.481+118_481+136del
NM_001007233.3:c.307+118_307+136del	NP_001007234.1:n.307+118_307+136del
NM_001290285.2:c.23-958_23-940del	NP_001277214.1:n.23-958_23-940del