Canonical Allele Identifier: CA1076601698

Gene: ERCC8

Linked Data

• gnomAD v3: 5-60904683-T-TATAA
• gnomAD v4: 5-60904683-T-TATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904684_60904685insTAAA , CM000667.2:g.60904684_60904685insTAAA	GRCh38
NC_000005.9:g.60200511_60200512insTAAA , CM000667.1:g.60200511_60200512insTAAA	GRCh37
NC_000005.8:g.60236268_60236269insTAAA	NCBI36
NG_009289.1:g.45395_45396insTTAT , LRG_466:g.45395_45396insTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+108_481+109insTTAT	ENSP00000408344.2:n.481+108_481+109insTTAT
ENST00000647431.2:c.582+108_582+109insTTAT	ENSP00000494726.2:n.582+108_582+109insTTAT
ENST00000647486.2:c.481+108_481+109insTTAT	ENSP00000494466.2:n.481+108_481+109insTTAT
ENST00000675042.2:c.307+108_307+109insTTAT	ENSP00000502082.2:n.307+108_307+109insTTAT
ENST00000675452.2:c.*446+108_*446+109insTTAT	ENSP00000506954.1:n.*446+108_*446+109insTTAT
ENST00000682217.1:c.481+108_481+109insTTAT	ENSP00000507570.1:n.481+108_481+109insTTAT
ENST00000682246.1:n.537+108_537+109insTTAT
ENST00000682375.1:c.*311+108_*311+109insTTAT	ENSP00000507551.1:n.*311+108_*311+109insTTAT
ENST00000683052.1:c.283+108_283+109insTTAT	ENSP00000507072.1:n.283+108_283+109insTTAT
ENST00000683199.1:n.503+108_503+109insTTAT
ENST00000683216.1:n.750+104_750+105insTTAT
ENST00000683460.1:c.*311+108_*311+109insTTAT	ENSP00000507820.1:n.*311+108_*311+109insTTAT
ENST00000684394.1:n.536+108_536+109insTTAT
ENST00000684453.1:n.531+108_531+109insTTAT
ENST00000684621.1:n.537+108_537+109insTTAT
ENST00000265038.10:c.481+108_481+109insTTAT	ENSP00000265038.6:n.481+108_481+109insTTAT
ENST00000497892.6:c.*279+108_*279+109insTTAT	ENSP00000501805.1:n.*279+108_*279+109insTTAT
ENST00000643034.1:c.*373+108_*373+109insTTAT	ENSP00000496080.1:n.*373+108_*373+109insTTAT
ENST00000643708.1:c.*311+108_*311+109insTTAT	ENSP00000494199.1:n.*311+108_*311+109insTTAT
ENST00000647431.1:c.533+108_533+109insTTAT
ENST00000647486.1:c.432+108_432+109insTTAT
ENST00000675042.1:c.307+108_307+109insTTAT	ENSP00000502082.1:n.307+108_307+109insTTAT
ENST00000675229.1:c.481+108_481+109insTTAT	ENSP00000502154.1:n.481+108_481+109insTTAT
ENST00000675378.1:c.481+108_481+109insTTAT	ENSP00000502535.1:n.481+108_481+109insTTAT
ENST00000675452.1:n.730+108_730+109insTTAT
ENST00000675920.1:n.1089+108_1089+109insTTAT
ENST00000676185.1:c.481+108_481+109insTTAT MANE Select	ENSP00000501614.1:n.481+108_481+109insTTAT
ENST00000265038.9:c.481+108_481+109insTTAT	ENSP00000265038.5:n.481+108_481+109insTTAT
ENST00000381118.7:c.*525+108_*525+109insTTAT	ENSP00000370510.3:n.*525+108_*525+109insTTAT
ENST00000439176.5:c.307+108_307+109insTTAT	ENSP00000408344.1:n.307+108_307+109insTTAT
ENST00000462279.5:n.326+108_326+109insTTAT
ENST00000484330.5:n.227-2176_227-2175insTTAT
ENST00000495985.5:n.258+104_258+105insTTAT
ENST00000497892.5:n.524+108_524+109insTTAT
NM_000082.3:c.481+108_481+109insTTAT , LRG_466t1:c.481+108_481+109insTTAT	NP_000073.1:n.481+108_481+109insTTAT
NM_001007233.2:c.307+108_307+109insTTAT	NP_001007234.1:n.307+108_307+109insTTAT
NM_001007234.2:c.481+108_481+109insTTAT	NP_001007235.1:n.481+108_481+109insTTAT
NM_001290285.1:c.23-968_23-967insTTAT	NP_001277214.1:n.23-968_23-967insTTAT
NM_001007234.3:c.481+108_481+109insTTAT	NP_001007235.1:n.481+108_481+109insTTAT
NM_000082.4:c.481+108_481+109insTTAT MANE Select	NP_000073.1:n.481+108_481+109insTTAT
NM_001007233.3:c.307+108_307+109insTTAT	NP_001007234.1:n.307+108_307+109insTTAT
NM_001290285.2:c.23-968_23-967insTTAT	NP_001277214.1:n.23-968_23-967insTTAT