Canonical Allele Identifier: CA812731986

Gene: ERCC8

Linked Data

• dbSNP Id: rs1188016836
• gnomAD v3: 5-60904628-GTGTGTGTATATATATATATATATATA-G
• gnomAD v4: 5-60904628-GTGTGTGTATATATATATATATATATA-G
• MyVariant Identifiers: chr5:g.60200456_60200481del (hg19) ; chr5:g.60904629_60904654del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904630_60904655del , CM000667.2:g.60904630_60904655del	GRCh38
NC_000005.9:g.60200457_60200482del , CM000667.1:g.60200457_60200482del	GRCh37
NC_000005.8:g.60236214_60236239del	NCBI36
NG_009289.1:g.45425_45450del , LRG_466:g.45425_45450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+138_481+163del	ENSP00000408344.2:n.481+138_481+163del
ENST00000647431.2:c.582+138_582+163del	ENSP00000494726.2:n.582+138_582+163del
ENST00000647486.2:c.481+138_481+163del	ENSP00000494466.2:n.481+138_481+163del
ENST00000675042.2:c.307+138_307+163del	ENSP00000502082.2:n.307+138_307+163del
ENST00000675452.2:c.*446+138_*446+163del	ENSP00000506954.1:n.*446+138_*446+163del
ENST00000682217.1:c.481+138_481+163del	ENSP00000507570.1:n.481+138_481+163del
ENST00000682246.1:n.537+138_537+163del
ENST00000682375.1:c.*311+138_*311+163del	ENSP00000507551.1:n.*311+138_*311+163del
ENST00000683052.1:c.283+138_283+163del	ENSP00000507072.1:n.283+138_283+163del
ENST00000683199.1:n.503+138_503+163del
ENST00000683216.1:n.750+134_750+159del
ENST00000683460.1:c.*311+138_*311+163del	ENSP00000507820.1:n.*311+138_*311+163del
ENST00000684394.1:n.536+138_536+163del
ENST00000684453.1:n.531+138_531+163del
ENST00000684621.1:n.537+138_537+163del
ENST00000265038.10:c.481+138_481+163del	ENSP00000265038.6:n.481+138_481+163del
ENST00000497892.6:c.*279+138_*279+163del	ENSP00000501805.1:n.*279+138_*279+163del
ENST00000643034.1:c.*373+138_*373+163del	ENSP00000496080.1:n.*373+138_*373+163del
ENST00000643708.1:c.*311+138_*311+163del	ENSP00000494199.1:n.*311+138_*311+163del
ENST00000647431.1:c.533+138_533+163del
ENST00000647486.1:c.432+138_432+163del
ENST00000675042.1:c.307+138_307+163del	ENSP00000502082.1:n.307+138_307+163del
ENST00000675229.1:c.481+138_481+163del	ENSP00000502154.1:n.481+138_481+163del
ENST00000675378.1:c.481+138_481+163del	ENSP00000502535.1:n.481+138_481+163del
ENST00000675452.1:n.730+138_730+163del
ENST00000675920.1:n.1089+138_1089+163del
ENST00000676185.1:c.481+138_481+163del MANE Select	ENSP00000501614.1:n.481+138_481+163del
ENST00000265038.9:c.481+138_481+163del	ENSP00000265038.5:n.481+138_481+163del
ENST00000381118.7:c.*525+138_*525+163del	ENSP00000370510.3:n.*525+138_*525+163del
ENST00000439176.5:c.307+138_307+163del	ENSP00000408344.1:n.307+138_307+163del
ENST00000462279.5:n.326+138_326+163del
ENST00000484330.5:n.227-2146_227-2121del
ENST00000495985.5:n.258+134_258+159del
ENST00000497892.5:n.524+138_524+163del
NM_000082.3:c.481+138_481+163del , LRG_466t1:c.481+138_481+163del	NP_000073.1:n.481+138_481+163del
NM_001007233.2:c.307+138_307+163del	NP_001007234.1:n.307+138_307+163del
NM_001007234.2:c.481+138_481+163del	NP_001007235.1:n.481+138_481+163del
NM_001290285.1:c.23-938_23-913del	NP_001277214.1:n.23-938_23-913del
NM_001007234.3:c.481+138_481+163del	NP_001007235.1:n.481+138_481+163del
NM_000082.4:c.481+138_481+163del MANE Select	NP_000073.1:n.481+138_481+163del
NM_001007233.3:c.307+138_307+163del	NP_001007234.1:n.307+138_307+163del
NM_001290285.2:c.23-938_23-913del	NP_001277214.1:n.23-938_23-913del