Canonical Allele Identifier: CA812732451

Gene: ERCC8

Linked Data

• dbSNP Id: rs1328950357
• gnomAD v3: 5-60904678-ATATAT-A
• gnomAD v4: 5-60904678-ATATAT-A
• MyVariant Identifiers: chr5:g.60200506_60200510del (hg19) ; chr5:g.60904679_60904683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904679_60904683del , CM000667.2:g.60904679_60904683del	GRCh38
NC_000005.9:g.60200506_60200510del , CM000667.1:g.60200506_60200510del	GRCh37
NC_000005.8:g.60236263_60236267del	NCBI36
NG_009289.1:g.45396_45400del , LRG_466:g.45396_45400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+109_481+113del	ENSP00000408344.2:n.481+109_481+113del
ENST00000647431.2:c.582+109_582+113del	ENSP00000494726.2:n.582+109_582+113del
ENST00000647486.2:c.481+109_481+113del	ENSP00000494466.2:n.481+109_481+113del
ENST00000675042.2:c.307+109_307+113del	ENSP00000502082.2:n.307+109_307+113del
ENST00000675452.2:c.*446+109_*446+113del	ENSP00000506954.1:n.*446+109_*446+113del
ENST00000682217.1:c.481+109_481+113del	ENSP00000507570.1:n.481+109_481+113del
ENST00000682246.1:n.537+109_537+113del
ENST00000682375.1:c.*311+109_*311+113del	ENSP00000507551.1:n.*311+109_*311+113del
ENST00000683052.1:c.283+109_283+113del	ENSP00000507072.1:n.283+109_283+113del
ENST00000683199.1:n.503+109_503+113del
ENST00000683216.1:n.750+105_750+109del
ENST00000683460.1:c.*311+109_*311+113del	ENSP00000507820.1:n.*311+109_*311+113del
ENST00000684394.1:n.536+109_536+113del
ENST00000684453.1:n.531+109_531+113del
ENST00000684621.1:n.537+109_537+113del
ENST00000265038.10:c.481+109_481+113del	ENSP00000265038.6:n.481+109_481+113del
ENST00000497892.6:c.*279+109_*279+113del	ENSP00000501805.1:n.*279+109_*279+113del
ENST00000643034.1:c.*373+109_*373+113del	ENSP00000496080.1:n.*373+109_*373+113del
ENST00000643708.1:c.*311+109_*311+113del	ENSP00000494199.1:n.*311+109_*311+113del
ENST00000647431.1:c.533+109_533+113del
ENST00000647486.1:c.432+109_432+113del
ENST00000675042.1:c.307+109_307+113del	ENSP00000502082.1:n.307+109_307+113del
ENST00000675229.1:c.481+109_481+113del	ENSP00000502154.1:n.481+109_481+113del
ENST00000675378.1:c.481+109_481+113del	ENSP00000502535.1:n.481+109_481+113del
ENST00000675452.1:n.730+109_730+113del
ENST00000675920.1:n.1089+109_1089+113del
ENST00000676185.1:c.481+109_481+113del MANE Select	ENSP00000501614.1:n.481+109_481+113del
ENST00000265038.9:c.481+109_481+113del	ENSP00000265038.5:n.481+109_481+113del
ENST00000381118.7:c.*525+109_*525+113del	ENSP00000370510.3:n.*525+109_*525+113del
ENST00000439176.5:c.307+109_307+113del	ENSP00000408344.1:n.307+109_307+113del
ENST00000462279.5:n.326+109_326+113del
ENST00000484330.5:n.227-2175_227-2171del
ENST00000495985.5:n.258+105_258+109del
ENST00000497892.5:n.524+109_524+113del
NM_000082.3:c.481+109_481+113del , LRG_466t1:c.481+109_481+113del	NP_000073.1:n.481+109_481+113del
NM_001007233.2:c.307+109_307+113del	NP_001007234.1:n.307+109_307+113del
NM_001007234.2:c.481+109_481+113del	NP_001007235.1:n.481+109_481+113del
NM_001290285.1:c.23-967_23-963del	NP_001277214.1:n.23-967_23-963del
NM_001007234.3:c.481+109_481+113del	NP_001007235.1:n.481+109_481+113del
NM_000082.4:c.481+109_481+113del MANE Select	NP_000073.1:n.481+109_481+113del
NM_001007233.3:c.307+109_307+113del	NP_001007234.1:n.307+109_307+113del
NM_001290285.2:c.23-967_23-963del	NP_001277214.1:n.23-967_23-963del