Canonical Allele Identifier: CA2695204490
Gene: ERCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60887442_60887522del , CM000667.2:g.60887442_60887522del GRCh38
NC_000005.9:g.60183269_60183349del , CM000667.1:g.60183269_60183349del GRCh37
NC_000005.8:g.60219026_60219106del NCBI36
NG_009289.1:g.62560_62640del , LRG_466:g.62560_62640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000439176.6:c.855+10757_855+10837del ENSP00000408344.2:n.855+10757_855+10837del
ENST00000647431.2:c.1144_1223+1del
ENST00000675042.2:c.869_948+1del
ENST00000675452.2:c.*1008_*1087+1del
ENST00000682217.1:c.845_924+1del
ENST00000682375.1:c.*873_*952+1del
ENST00000683052.1:c.845_924+1del
ENST00000683216.1:n.4680_4759+1del
ENST00000683460.1:c.*2480_*2559+1del
ENST00000683688.1:n.2789_2869del
ENST00000684621.1:n.901_981del
ENST00000265038.10:c.1100_1179+1del
ENST00000643034.1:c.*935_*1014+1del
ENST00000643708.1:c.*873_*952+1del
ENST00000647431.1:c.1095_1174+1del
ENST00000675378.1:c.*44_*123+1del
ENST00000675452.1:n.1292_1371+1del
ENST00000676185.1:c.1043_1122+1del
ENST00000265038.9:c.1043_1122+1del
ENST00000381118.7:c.*1087_*1166+1del
ENST00000462279.5:n.2495_2574+1del
NM_000082.3:c.1043_1122+1del , LRG_466t1:c.1043_1122+1del
NM_001007233.2:c.869_948+1del
NM_001290285.1:c.584_663+1del
NM_000082.4:c.1043_1122+1del
NM_001007233.3:c.869_948+1del
NM_001290285.2:c.584_663+1del