Canonical Allele Identifier: CA913108996

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183293dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887466dup , CM000667.2:g.60887466dup	GRCh38
NC_000005.9:g.60183293dup , CM000667.1:g.60183293dup	GRCh37
NC_000005.8:g.60219050dup	NCBI36
NG_009289.1:g.62613dup , LRG_466:g.62613dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10810dup	ENSP00000408344.2:n.855+10810dup
ENST00000647431.2:c.1197dup	ENSP00000494726.2:n.1197dup
ENST00000675042.2:c.922dup	ENSP00000502082.2:p.Tyr308LeufsTer2
ENST00000675452.2:c.*1061dup	ENSP00000506954.1:n.*1061dup
ENST00000682217.1:c.898dup	ENSP00000507570.1:p.Tyr300LeufsTer2
ENST00000682375.1:c.*926dup	ENSP00000507551.1:n.*926dup
ENST00000683052.1:c.898dup	ENSP00000507072.1:p.Tyr300LeufsTer2
ENST00000683216.1:n.4733dup
ENST00000683460.1:c.*2533dup	ENSP00000507820.1:n.*2533dup
ENST00000683688.1:n.2842dup
ENST00000684621.1:n.954dup
ENST00000265038.10:c.1153dup	ENSP00000265038.6:p.Tyr385LeufsTer2
ENST00000643034.1:c.*988dup	ENSP00000496080.1:n.*988dup
ENST00000643708.1:c.*926dup	ENSP00000494199.1:n.*926dup
ENST00000647431.1:c.1148dup
ENST00000675378.1:c.*97dup	ENSP00000502535.1:n.*97dup
ENST00000675452.1:n.1345dup
ENST00000676185.1:c.1096dup MANE Select	ENSP00000501614.1:p.Tyr366LeufsTer2
ENST00000265038.9:c.1096dup	ENSP00000265038.5:p.Tyr366LeufsTer2
ENST00000381118.7:c.*1140dup	ENSP00000370510.3:n.*1140dup
ENST00000462279.5:n.2548dup
NM_000082.3:c.1096dup , LRG_466t1:c.1096dup	NP_000073.1:p.Tyr366LeufsTer2
NM_001007233.2:c.922dup	NP_001007234.1:p.Tyr308LeufsTer2
NM_001290285.1:c.637dup	NP_001277214.1:p.Tyr213LeufsTer2
NM_000082.4:c.1096dup MANE Select	NP_000073.1:p.Tyr366LeufsTer2
NM_001007233.3:c.922dup	NP_001007234.1:p.Tyr308LeufsTer2
NM_001290285.2:c.637dup	NP_001277214.1:p.Tyr213LeufsTer2