Canonical Allele Identifier: CA1549988844

Gene: ERCC8

Linked Data

• dbSNP Id: rs1748998633

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904622_60904652del , CM000667.2:g.60904622_60904652del	GRCh38
NC_000005.9:g.60200449_60200479del , CM000667.1:g.60200449_60200479del	GRCh37
NC_000005.8:g.60236206_60236236del	NCBI36
NG_009289.1:g.45436_45466del , LRG_466:g.45436_45466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+149_481+179del	ENSP00000408344.2:n.481+149_481+179del
ENST00000647431.2:c.582+149_582+179del	ENSP00000494726.2:n.582+149_582+179del
ENST00000647486.2:c.481+149_481+179del	ENSP00000494466.2:n.481+149_481+179del
ENST00000675042.2:c.307+149_307+179del	ENSP00000502082.2:n.307+149_307+179del
ENST00000675452.2:c.*446+149_*446+179del	ENSP00000506954.1:n.*446+149_*446+179del
ENST00000682217.1:c.481+149_481+179del	ENSP00000507570.1:n.481+149_481+179del
ENST00000682246.1:n.537+149_537+179del
ENST00000682375.1:c.*311+149_*311+179del	ENSP00000507551.1:n.*311+149_*311+179del
ENST00000683052.1:c.283+149_283+179del	ENSP00000507072.1:n.283+149_283+179del
ENST00000683199.1:n.503+149_503+179del
ENST00000683216.1:n.750+145_750+175del
ENST00000683460.1:c.*311+149_*311+179del	ENSP00000507820.1:n.*311+149_*311+179del
ENST00000684394.1:n.536+149_536+179del
ENST00000684453.1:n.531+149_531+179del
ENST00000684621.1:n.537+149_537+179del
ENST00000265038.10:c.481+149_481+179del	ENSP00000265038.6:n.481+149_481+179del
ENST00000497892.6:c.*279+149_*279+179del	ENSP00000501805.1:n.*279+149_*279+179del
ENST00000643034.1:c.*373+149_*373+179del	ENSP00000496080.1:n.*373+149_*373+179del
ENST00000643708.1:c.*311+149_*311+179del	ENSP00000494199.1:n.*311+149_*311+179del
ENST00000647431.1:c.533+149_533+179del
ENST00000647486.1:c.432+149_432+179del
ENST00000675042.1:c.307+149_307+179del	ENSP00000502082.1:n.307+149_307+179del
ENST00000675229.1:c.481+149_481+179del	ENSP00000502154.1:n.481+149_481+179del
ENST00000675378.1:c.481+149_481+179del	ENSP00000502535.1:n.481+149_481+179del
ENST00000675452.1:n.730+149_730+179del
ENST00000675920.1:n.1089+149_1089+179del
ENST00000676185.1:c.481+149_481+179del MANE Select	ENSP00000501614.1:n.481+149_481+179del
ENST00000265038.9:c.481+149_481+179del	ENSP00000265038.5:n.481+149_481+179del
ENST00000381118.7:c.*525+149_*525+179del	ENSP00000370510.3:n.*525+149_*525+179del
ENST00000439176.5:c.307+149_307+179del	ENSP00000408344.1:n.307+149_307+179del
ENST00000462279.5:n.326+149_326+179del
ENST00000484330.5:n.227-2135_227-2105del
ENST00000495985.5:n.258+145_258+175del
ENST00000497892.5:n.524+149_524+179del
NM_000082.3:c.481+149_481+179del , LRG_466t1:c.481+149_481+179del	NP_000073.1:n.481+149_481+179del
NM_001007233.2:c.307+149_307+179del	NP_001007234.1:n.307+149_307+179del
NM_001007234.2:c.481+149_481+179del	NP_001007235.1:n.481+149_481+179del
NM_001290285.1:c.23-927_23-897del	NP_001277214.1:n.23-927_23-897del
NM_001007234.3:c.481+149_481+179del	NP_001007235.1:n.481+149_481+179del
NM_000082.4:c.481+149_481+179del MANE Select	NP_000073.1:n.481+149_481+179del
NM_001007233.3:c.307+149_307+179del	NP_001007234.1:n.307+149_307+179del
NM_001290285.2:c.23-927_23-897del	NP_001277214.1:n.23-927_23-897del