Canonical Allele Identifier: CA2739274739

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 2813086
• ClinVar RCV Id: RCV003677832

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887432_60887434del , CM000667.2:g.60887432_60887434del	GRCh38
NC_000005.9:g.60183259_60183261del , CM000667.1:g.60183259_60183261del	GRCh37
NC_000005.8:g.60219016_60219018del	NCBI36
NG_009289.1:g.62649_62651del , LRG_466:g.62649_62651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10846_855+10848del	ENSP00000408344.2:n.855+10846_855+10848del
ENST00000647431.2:c.1223+10_1223+12del	ENSP00000494726.2:n.1223+10_1223+12del
ENST00000675042.2:c.948+10_948+12del	ENSP00000502082.2:n.948+10_948+12del
ENST00000675452.2:c.*1087+10_*1087+12del	ENSP00000506954.1:n.*1087+10_*1087+12del
ENST00000682217.1:c.924+10_924+12del	ENSP00000507570.1:n.924+10_924+12del
ENST00000682375.1:c.*952+10_*952+12del	ENSP00000507551.1:n.*952+10_*952+12del
ENST00000683052.1:c.924+10_924+12del	ENSP00000507072.1:n.924+10_924+12del
ENST00000683216.1:n.4759+10_4759+12del
ENST00000683460.1:c.*2559+10_*2559+12del	ENSP00000507820.1:n.*2559+10_*2559+12del
ENST00000683688.1:n.2878_2880del
ENST00000684621.1:n.990_992del
ENST00000265038.10:c.1179+10_1179+12del	ENSP00000265038.6:n.1179+10_1179+12del
ENST00000643034.1:c.*1014+10_*1014+12del	ENSP00000496080.1:n.*1014+10_*1014+12del
ENST00000643708.1:c.*952+10_*952+12del	ENSP00000494199.1:n.*952+10_*952+12del
ENST00000647431.1:c.1174+10_1174+12del
ENST00000675378.1:c.*123+10_*123+12del	ENSP00000502535.1:n.*123+10_*123+12del
ENST00000675452.1:n.1371+10_1371+12del
ENST00000676185.1:c.1122+10_1122+12del MANE Select	ENSP00000501614.1:n.1122+10_1122+12del
ENST00000265038.9:c.1122+10_1122+12del	ENSP00000265038.5:n.1122+10_1122+12del
ENST00000381118.7:c.*1166+10_*1166+12del	ENSP00000370510.3:n.*1166+10_*1166+12del
ENST00000462279.5:n.2574+10_2574+12del
NM_000082.3:c.1122+10_1122+12del , LRG_466t1:c.1122+10_1122+12del	NP_000073.1:n.1122+10_1122+12del
NM_001007233.2:c.948+10_948+12del	NP_001007234.1:n.948+10_948+12del
NM_001290285.1:c.663+10_663+12del	NP_001277214.1:n.663+10_663+12del
NM_000082.4:c.1122+10_1122+12del MANE Select	NP_000073.1:n.1122+10_1122+12del
NM_001007233.3:c.948+10_948+12del	NP_001007234.1:n.948+10_948+12del
NM_001290285.2:c.663+10_663+12del	NP_001277214.1:n.663+10_663+12del