Canonical Allele Identifier: CA2673965068

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904744-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904747_60904748del , CM000667.2:g.60904747_60904748del	GRCh38
NC_000005.9:g.60200574_60200575del , CM000667.1:g.60200574_60200575del	GRCh37
NC_000005.8:g.60236331_60236332del	NCBI36
NG_009289.1:g.45333_45334del , LRG_466:g.45333_45334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+46_481+47del	ENSP00000408344.2:n.481+46_481+47del
ENST00000647431.2:c.582+46_582+47del	ENSP00000494726.2:n.582+46_582+47del
ENST00000647486.2:c.481+46_481+47del	ENSP00000494466.2:n.481+46_481+47del
ENST00000675042.2:c.307+46_307+47del	ENSP00000502082.2:n.307+46_307+47del
ENST00000675452.2:c.*446+46_*446+47del	ENSP00000506954.1:n.*446+46_*446+47del
ENST00000682217.1:c.481+46_481+47del	ENSP00000507570.1:n.481+46_481+47del
ENST00000682246.1:n.537+46_537+47del
ENST00000682375.1:c.*311+46_*311+47del	ENSP00000507551.1:n.*311+46_*311+47del
ENST00000683052.1:c.283+46_283+47del	ENSP00000507072.1:n.283+46_283+47del
ENST00000683199.1:n.503+46_503+47del
ENST00000683216.1:n.750+42_750+43del
ENST00000683460.1:c.*311+46_*311+47del	ENSP00000507820.1:n.*311+46_*311+47del
ENST00000684394.1:n.536+46_536+47del
ENST00000684453.1:n.531+46_531+47del
ENST00000684621.1:n.537+46_537+47del
ENST00000265038.10:c.481+46_481+47del	ENSP00000265038.6:n.481+46_481+47del
ENST00000497892.6:c.*279+46_*279+47del	ENSP00000501805.1:n.*279+46_*279+47del
ENST00000643034.1:c.*373+46_*373+47del	ENSP00000496080.1:n.*373+46_*373+47del
ENST00000643708.1:c.*311+46_*311+47del	ENSP00000494199.1:n.*311+46_*311+47del
ENST00000647431.1:c.533+46_533+47del
ENST00000647486.1:c.432+46_432+47del
ENST00000675042.1:c.307+46_307+47del	ENSP00000502082.1:n.307+46_307+47del
ENST00000675229.1:c.481+46_481+47del	ENSP00000502154.1:n.481+46_481+47del
ENST00000675378.1:c.481+46_481+47del	ENSP00000502535.1:n.481+46_481+47del
ENST00000675452.1:n.730+46_730+47del
ENST00000675920.1:n.1089+46_1089+47del
ENST00000676185.1:c.481+46_481+47del MANE Select	ENSP00000501614.1:n.481+46_481+47del
ENST00000265038.9:c.481+46_481+47del	ENSP00000265038.5:n.481+46_481+47del
ENST00000381118.7:c.*525+46_*525+47del	ENSP00000370510.3:n.*525+46_*525+47del
ENST00000439176.5:c.307+46_307+47del	ENSP00000408344.1:n.307+46_307+47del
ENST00000462279.5:n.326+46_326+47del
ENST00000484330.5:n.227-2238_227-2237del
ENST00000495985.5:n.258+42_258+43del
ENST00000497892.5:n.524+46_524+47del
NM_000082.3:c.481+46_481+47del , LRG_466t1:c.481+46_481+47del	NP_000073.1:n.481+46_481+47del
NM_001007233.2:c.307+46_307+47del	NP_001007234.1:n.307+46_307+47del
NM_001007234.2:c.481+46_481+47del	NP_001007235.1:n.481+46_481+47del
NM_001290285.1:c.23-1030_23-1029del	NP_001277214.1:n.23-1030_23-1029del
NM_001007234.3:c.481+46_481+47del	NP_001007235.1:n.481+46_481+47del
NM_000082.4:c.481+46_481+47del MANE Select	NP_000073.1:n.481+46_481+47del
NM_001007233.3:c.307+46_307+47del	NP_001007234.1:n.307+46_307+47del
NM_001290285.2:c.23-1030_23-1029del	NP_001277214.1:n.23-1030_23-1029del