Canonical Allele Identifier: CA559820739

Gene: ERCC8

Linked Data

• dbSNP Id: rs1346914944
• gnomAD v2: 5-60200453-GTGTGTGTGTATA-G
• gnomAD v3: 5-60904626-GTGTGTGTGTATA-G
• gnomAD v4: 5-60904626-GTGTGTGTGTATA-G
• MyVariant Identifiers: chr5:g.60200454_60200465del (hg19) ; chr5:g.60200455_60200483delinsATATATATATATATATA (hg19) ; chr5:g.60904627_60904638del (hg38) ; chr5:g.60904628_60904656delinsATATATATATATATATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904628_60904639del , CM000667.2:g.60904628_60904639del	GRCh38
NC_000005.9:g.60200455_60200466del , CM000667.1:g.60200455_60200466del	GRCh37
NC_000005.8:g.60236212_60236223del	NCBI36
NG_009289.1:g.45441_45452del , LRG_466:g.45441_45452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+154_481+165del	ENSP00000408344.2:n.481+154_481+165del
ENST00000647431.2:c.582+154_582+165del	ENSP00000494726.2:n.582+154_582+165del
ENST00000647486.2:c.481+154_481+165del	ENSP00000494466.2:n.481+154_481+165del
ENST00000675042.2:c.307+154_307+165del	ENSP00000502082.2:n.307+154_307+165del
ENST00000675452.2:c.*446+154_*446+165del	ENSP00000506954.1:n.*446+154_*446+165del
ENST00000682217.1:c.481+154_481+165del	ENSP00000507570.1:n.481+154_481+165del
ENST00000682246.1:n.537+154_537+165del
ENST00000682375.1:c.*311+154_*311+165del	ENSP00000507551.1:n.*311+154_*311+165del
ENST00000683052.1:c.283+154_283+165del	ENSP00000507072.1:n.283+154_283+165del
ENST00000683199.1:n.503+154_503+165del
ENST00000683216.1:n.750+150_750+161del
ENST00000683460.1:c.*311+154_*311+165del	ENSP00000507820.1:n.*311+154_*311+165del
ENST00000684394.1:n.536+154_536+165del
ENST00000684453.1:n.531+154_531+165del
ENST00000684621.1:n.537+154_537+165del
ENST00000265038.10:c.481+154_481+165del	ENSP00000265038.6:n.481+154_481+165del
ENST00000497892.6:c.*279+154_*279+165del	ENSP00000501805.1:n.*279+154_*279+165del
ENST00000643034.1:c.*373+154_*373+165del	ENSP00000496080.1:n.*373+154_*373+165del
ENST00000643708.1:c.*311+154_*311+165del	ENSP00000494199.1:n.*311+154_*311+165del
ENST00000647431.1:c.533+154_533+165del
ENST00000647486.1:c.432+154_432+165del
ENST00000675042.1:c.307+154_307+165del	ENSP00000502082.1:n.307+154_307+165del
ENST00000675229.1:c.481+154_481+165del	ENSP00000502154.1:n.481+154_481+165del
ENST00000675378.1:c.481+154_481+165del	ENSP00000502535.1:n.481+154_481+165del
ENST00000675452.1:n.730+154_730+165del
ENST00000675920.1:n.1089+154_1089+165del
ENST00000676185.1:c.481+154_481+165del MANE Select	ENSP00000501614.1:n.481+154_481+165del
ENST00000265038.9:c.481+154_481+165del	ENSP00000265038.5:n.481+154_481+165del
ENST00000381118.7:c.*525+154_*525+165del	ENSP00000370510.3:n.*525+154_*525+165del
ENST00000439176.5:c.307+154_307+165del	ENSP00000408344.1:n.307+154_307+165del
ENST00000462279.5:n.326+154_326+165del
ENST00000484330.5:n.227-2130_227-2119del
ENST00000495985.5:n.258+150_258+161del
ENST00000497892.5:n.524+154_524+165del
NM_000082.3:c.481+154_481+165del , LRG_466t1:c.481+154_481+165del	NP_000073.1:n.481+154_481+165del
NM_001007233.2:c.307+154_307+165del	NP_001007234.1:n.307+154_307+165del
NM_001007234.2:c.481+154_481+165del	NP_001007235.1:n.481+154_481+165del
NM_001290285.1:c.23-922_23-911del	NP_001277214.1:n.23-922_23-911del
NM_001007234.3:c.481+154_481+165del	NP_001007235.1:n.481+154_481+165del
NM_000082.4:c.481+154_481+165del MANE Select	NP_000073.1:n.481+154_481+165del
NM_001007233.3:c.307+154_307+165del	NP_001007234.1:n.307+154_307+165del
NM_001290285.2:c.23-922_23-911del	NP_001277214.1:n.23-922_23-911del