Canonical Allele Identifier: CA1549981523
Gene: ERCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60887456_60887457delinsAC , CM000667.2:g.60887456_60887457delinsAC GRCh38
NC_000005.9:g.60183283_60183284delinsAC , CM000667.1:g.60183283_60183284delinsAC GRCh37
NC_000005.8:g.60219040_60219041delinsAC NCBI36
NG_009289.1:g.62622_62623delinsGT , LRG_466:g.62622_62623delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000439176.6:c.855+10819_855+10820delinsGT ENSP00000408344.2:n.855+10819_855+10820delinsGT
ENST00000647431.2:c.1206_1207delinsGT ENSP00000494726.2:n.1206_1207delinsGT
ENST00000675042.2:c.931_932delinsGT ENSP00000502082.2:p.Val311=
ENST00000675452.2:c.*1070_*1071delinsGT ENSP00000506954.1:n.*1070_*1071delinsGT
ENST00000682217.1:c.907_908delinsGT ENSP00000507570.1:p.Val303=
ENST00000682375.1:c.*935_*936delinsGT ENSP00000507551.1:n.*935_*936delinsGT
ENST00000683052.1:c.907_908delinsGT ENSP00000507072.1:p.Val303=
ENST00000683216.1:n.4742_4743delinsGT
ENST00000683460.1:c.*2542_*2543delinsGT ENSP00000507820.1:n.*2542_*2543delinsGT
ENST00000683688.1:n.2851_2852delinsGT
ENST00000684621.1:n.963_964delinsGT
ENST00000265038.10:c.1162_1163delinsGT ENSP00000265038.6:p.Val388=
ENST00000643034.1:c.*997_*998delinsGT ENSP00000496080.1:n.*997_*998delinsGT
ENST00000643708.1:c.*935_*936delinsGT ENSP00000494199.1:n.*935_*936delinsGT
ENST00000647431.1:c.1157_1158delinsGT
ENST00000675378.1:c.*106_*107delinsGT ENSP00000502535.1:n.*106_*107delinsGT
ENST00000675452.1:n.1354_1355delinsGT
ENST00000676185.1:c.1105_1106delinsGT MANE Select ENSP00000501614.1:p.Val369=
ENST00000265038.9:c.1105_1106delinsGT ENSP00000265038.5:p.Val369=
ENST00000381118.7:c.*1149_*1150delinsGT ENSP00000370510.3:n.*1149_*1150delinsGT
ENST00000462279.5:n.2557_2558delinsGT
NM_000082.3:c.1105_1106delinsGT , LRG_466t1:c.1105_1106delinsGT NP_000073.1:p.Val369=
NM_001007233.2:c.931_932delinsGT NP_001007234.1:p.Val311=
NM_001290285.1:c.646_647delinsGT NP_001277214.1:p.Val216=
NM_000082.4:c.1105_1106delinsGT MANE Select NP_000073.1:p.Val369=
NM_001007233.3:c.931_932delinsGT NP_001007234.1:p.Val311=
NM_001290285.2:c.646_647delinsGT NP_001277214.1:p.Val216=