Canonical Allele Identifier: CA3277837

Gene: ERCC8

Linked Data

• dbSNP Id: rs747559514
• ExAC: 5:60200574 GAA / G
• MyVariant Identifiers: chr5:g.60200575_60200576del (hg19) ; chr5:g.60904748_60904749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904749_60904750del , CM000667.2:g.60904749_60904750del	GRCh38
NC_000005.9:g.60200576_60200577del , CM000667.1:g.60200576_60200577del	GRCh37
NC_000005.8:g.60236333_60236334del	NCBI36
NG_009289.1:g.45330_45331del , LRG_466:g.45330_45331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+43_481+44del	ENSP00000408344.2:n.481+43_481+44del
ENST00000647431.2:c.582+43_582+44del	ENSP00000494726.2:n.582+43_582+44del
ENST00000647486.2:c.481+43_481+44del	ENSP00000494466.2:n.481+43_481+44del
ENST00000675042.2:c.307+43_307+44del	ENSP00000502082.2:n.307+43_307+44del
ENST00000675452.2:c.*446+43_*446+44del	ENSP00000506954.1:n.*446+43_*446+44del
ENST00000682217.1:c.481+43_481+44del	ENSP00000507570.1:n.481+43_481+44del
ENST00000682246.1:n.537+43_537+44del
ENST00000682375.1:c.*311+43_*311+44del	ENSP00000507551.1:n.*311+43_*311+44del
ENST00000683052.1:c.283+43_283+44del	ENSP00000507072.1:n.283+43_283+44del
ENST00000683199.1:n.503+43_503+44del
ENST00000683216.1:n.750+39_750+40del
ENST00000683460.1:c.*311+43_*311+44del	ENSP00000507820.1:n.*311+43_*311+44del
ENST00000684394.1:n.536+43_536+44del
ENST00000684453.1:n.531+43_531+44del
ENST00000684621.1:n.537+43_537+44del
ENST00000265038.10:c.481+43_481+44del	ENSP00000265038.6:n.481+43_481+44del
ENST00000497892.6:c.*279+43_*279+44del	ENSP00000501805.1:n.*279+43_*279+44del
ENST00000643034.1:c.*373+43_*373+44del	ENSP00000496080.1:n.*373+43_*373+44del
ENST00000643708.1:c.*311+43_*311+44del	ENSP00000494199.1:n.*311+43_*311+44del
ENST00000647431.1:c.533+43_533+44del
ENST00000647486.1:c.432+43_432+44del
ENST00000675042.1:c.307+43_307+44del	ENSP00000502082.1:n.307+43_307+44del
ENST00000675229.1:c.481+43_481+44del	ENSP00000502154.1:n.481+43_481+44del
ENST00000675378.1:c.481+43_481+44del	ENSP00000502535.1:n.481+43_481+44del
ENST00000675452.1:n.730+43_730+44del
ENST00000675920.1:n.1089+43_1089+44del
ENST00000676185.1:c.481+43_481+44del MANE Select	ENSP00000501614.1:n.481+43_481+44del
ENST00000265038.9:c.481+43_481+44del	ENSP00000265038.5:n.481+43_481+44del
ENST00000381118.7:c.*525+43_*525+44del	ENSP00000370510.3:n.*525+43_*525+44del
ENST00000439176.5:c.307+43_307+44del	ENSP00000408344.1:n.307+43_307+44del
ENST00000462279.5:n.326+43_326+44del
ENST00000484330.5:n.227-2241_227-2240del
ENST00000495985.5:n.258+39_258+40del
ENST00000497892.5:n.524+43_524+44del
NM_000082.3:c.481+43_481+44del , LRG_466t1:c.481+43_481+44del	NP_000073.1:n.481+43_481+44del
NM_001007233.2:c.307+43_307+44del	NP_001007234.1:n.307+43_307+44del
NM_001007234.2:c.481+43_481+44del	NP_001007235.1:n.481+43_481+44del
NM_001290285.1:c.23-1033_23-1032del	NP_001277214.1:n.23-1033_23-1032del
NM_001007234.3:c.481+43_481+44del	NP_001007235.1:n.481+43_481+44del
NM_000082.4:c.481+43_481+44del MANE Select	NP_000073.1:n.481+43_481+44del
NM_001007233.3:c.307+43_307+44del	NP_001007234.1:n.307+43_307+44del
NM_001290285.2:c.23-1033_23-1032del	NP_001277214.1:n.23-1033_23-1032del