Canonical Allele Identifier: CA812731857

Gene: ERCC8

Linked Data

• dbSNP Id: rs1421359265
• MyVariant Identifiers: chr5:g.60200435_60200436insTTGAATA (hg19) ; chr5:g.60904608_60904609insTTGAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904610_60904616dup , CM000667.2:g.60904610_60904616dup	GRCh38
NC_000005.9:g.60200437_60200443dup , CM000667.1:g.60200437_60200443dup	GRCh37
NC_000005.8:g.60236194_60236200dup	NCBI36
NG_009289.1:g.45464_45470dup , LRG_466:g.45464_45470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+177_481+183dup	ENSP00000408344.2:n.481+177_481+183dup
ENST00000647431.2:c.582+177_582+183dup	ENSP00000494726.2:n.582+177_582+183dup
ENST00000647486.2:c.481+177_481+183dup	ENSP00000494466.2:n.481+177_481+183dup
ENST00000675042.2:c.307+177_307+183dup	ENSP00000502082.2:n.307+177_307+183dup
ENST00000675452.2:c.*446+177_*446+183dup	ENSP00000506954.1:n.*446+177_*446+183dup
ENST00000682217.1:c.481+177_481+183dup	ENSP00000507570.1:n.481+177_481+183dup
ENST00000682246.1:n.537+177_537+183dup
ENST00000682375.1:c.*311+177_*311+183dup	ENSP00000507551.1:n.*311+177_*311+183dup
ENST00000683052.1:c.283+177_283+183dup	ENSP00000507072.1:n.283+177_283+183dup
ENST00000683199.1:n.503+177_503+183dup
ENST00000683216.1:n.750+173_750+179dup
ENST00000683460.1:c.*311+177_*311+183dup	ENSP00000507820.1:n.*311+177_*311+183dup
ENST00000684394.1:n.536+177_536+183dup
ENST00000684453.1:n.531+177_531+183dup
ENST00000684621.1:n.537+177_537+183dup
ENST00000265038.10:c.481+177_481+183dup	ENSP00000265038.6:n.481+177_481+183dup
ENST00000497892.6:c.*279+177_*279+183dup	ENSP00000501805.1:n.*279+177_*279+183dup
ENST00000643034.1:c.*373+177_*373+183dup	ENSP00000496080.1:n.*373+177_*373+183dup
ENST00000643708.1:c.*311+177_*311+183dup	ENSP00000494199.1:n.*311+177_*311+183dup
ENST00000647431.1:c.533+177_533+183dup
ENST00000647486.1:c.432+177_432+183dup
ENST00000675042.1:c.307+177_307+183dup	ENSP00000502082.1:n.307+177_307+183dup
ENST00000675229.1:c.481+177_481+183dup	ENSP00000502154.1:n.481+177_481+183dup
ENST00000675378.1:c.481+177_481+183dup	ENSP00000502535.1:n.481+177_481+183dup
ENST00000675452.1:n.730+177_730+183dup
ENST00000675920.1:n.1089+177_1089+183dup
ENST00000676185.1:c.481+177_481+183dup MANE Select	ENSP00000501614.1:n.481+177_481+183dup
ENST00000265038.9:c.481+177_481+183dup	ENSP00000265038.5:n.481+177_481+183dup
ENST00000381118.7:c.*525+177_*525+183dup	ENSP00000370510.3:n.*525+177_*525+183dup
ENST00000439176.5:c.307+177_307+183dup	ENSP00000408344.1:n.307+177_307+183dup
ENST00000462279.5:n.326+177_326+183dup
ENST00000484330.5:n.227-2107_227-2101dup
ENST00000495985.5:n.258+173_258+179dup
ENST00000497892.5:n.524+177_524+183dup
NM_000082.3:c.481+177_481+183dup , LRG_466t1:c.481+177_481+183dup	NP_000073.1:n.481+177_481+183dup
NM_001007233.2:c.307+177_307+183dup	NP_001007234.1:n.307+177_307+183dup
NM_001007234.2:c.481+177_481+183dup	NP_001007235.1:n.481+177_481+183dup
NM_001290285.1:c.23-899_23-893dup	NP_001277214.1:n.23-899_23-893dup
NM_001007234.3:c.481+177_481+183dup	NP_001007235.1:n.481+177_481+183dup
NM_000082.4:c.481+177_481+183dup MANE Select	NP_000073.1:n.481+177_481+183dup
NM_001007233.3:c.307+177_307+183dup	NP_001007234.1:n.307+177_307+183dup
NM_001290285.2:c.23-899_23-893dup	NP_001277214.1:n.23-899_23-893dup