Canonical Allele Identifier: CA1549988845

Gene: ERCC8

Linked Data

• dbSNP Id: rs1748998711

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904622_60904674del , CM000667.2:g.60904622_60904674del	GRCh38
NC_000005.9:g.60200449_60200501del , CM000667.1:g.60200449_60200501del	GRCh37
NC_000005.8:g.60236206_60236258del	NCBI36
NG_009289.1:g.45414_45466del , LRG_466:g.45414_45466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+127_481+179del	ENSP00000408344.2:n.481+127_481+179del
ENST00000647431.2:c.582+127_582+179del	ENSP00000494726.2:n.582+127_582+179del
ENST00000647486.2:c.481+127_481+179del	ENSP00000494466.2:n.481+127_481+179del
ENST00000675042.2:c.307+127_307+179del	ENSP00000502082.2:n.307+127_307+179del
ENST00000675452.2:c.*446+127_*446+179del	ENSP00000506954.1:n.*446+127_*446+179del
ENST00000682217.1:c.481+127_481+179del	ENSP00000507570.1:n.481+127_481+179del
ENST00000682246.1:n.537+127_537+179del
ENST00000682375.1:c.*311+127_*311+179del	ENSP00000507551.1:n.*311+127_*311+179del
ENST00000683052.1:c.283+127_283+179del	ENSP00000507072.1:n.283+127_283+179del
ENST00000683199.1:n.503+127_503+179del
ENST00000683216.1:n.750+123_750+175del
ENST00000683460.1:c.*311+127_*311+179del	ENSP00000507820.1:n.*311+127_*311+179del
ENST00000684394.1:n.536+127_536+179del
ENST00000684453.1:n.531+127_531+179del
ENST00000684621.1:n.537+127_537+179del
ENST00000265038.10:c.481+127_481+179del	ENSP00000265038.6:n.481+127_481+179del
ENST00000497892.6:c.*279+127_*279+179del	ENSP00000501805.1:n.*279+127_*279+179del
ENST00000643034.1:c.*373+127_*373+179del	ENSP00000496080.1:n.*373+127_*373+179del
ENST00000643708.1:c.*311+127_*311+179del	ENSP00000494199.1:n.*311+127_*311+179del
ENST00000647431.1:c.533+127_533+179del
ENST00000647486.1:c.432+127_432+179del
ENST00000675042.1:c.307+127_307+179del	ENSP00000502082.1:n.307+127_307+179del
ENST00000675229.1:c.481+127_481+179del	ENSP00000502154.1:n.481+127_481+179del
ENST00000675378.1:c.481+127_481+179del	ENSP00000502535.1:n.481+127_481+179del
ENST00000675452.1:n.730+127_730+179del
ENST00000675920.1:n.1089+127_1089+179del
ENST00000676185.1:c.481+127_481+179del MANE Select	ENSP00000501614.1:n.481+127_481+179del
ENST00000265038.9:c.481+127_481+179del	ENSP00000265038.5:n.481+127_481+179del
ENST00000381118.7:c.*525+127_*525+179del	ENSP00000370510.3:n.*525+127_*525+179del
ENST00000439176.5:c.307+127_307+179del	ENSP00000408344.1:n.307+127_307+179del
ENST00000462279.5:n.326+127_326+179del
ENST00000484330.5:n.227-2157_227-2105del
ENST00000495985.5:n.258+123_258+175del
ENST00000497892.5:n.524+127_524+179del
NM_000082.3:c.481+127_481+179del , LRG_466t1:c.481+127_481+179del	NP_000073.1:n.481+127_481+179del
NM_001007233.2:c.307+127_307+179del	NP_001007234.1:n.307+127_307+179del
NM_001007234.2:c.481+127_481+179del	NP_001007235.1:n.481+127_481+179del
NM_001290285.1:c.23-949_23-897del	NP_001277214.1:n.23-949_23-897del
NM_001007234.3:c.481+127_481+179del	NP_001007235.1:n.481+127_481+179del
NM_000082.4:c.481+127_481+179del MANE Select	NP_000073.1:n.481+127_481+179del
NM_001007233.3:c.307+127_307+179del	NP_001007234.1:n.307+127_307+179del
NM_001290285.2:c.23-949_23-897del	NP_001277214.1:n.23-949_23-897del