Canonical Allele Identifier: CA118853474

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 1304955
• ClinVar RCV Id: RCV001754523
• dbSNP Id: rs35456838
• gnomAD v2: 5-60200448-AGTGT-A
• gnomAD v3: 5-60904621-AGTGT-A
• gnomAD v4: 5-60904621-AGTGT-A
• MyVariant Identifiers: chr5:g.60200451_60200454del (hg19) ; chr5:g.60200449_60200452del (hg19) ; chr5:g.60904624_60904627del (hg38) ; chr5:g.60904622_60904625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904632_60904635del , CM000667.2:g.60904632_60904635del	GRCh38
NC_000005.9:g.60200459_60200462del , CM000667.1:g.60200459_60200462del	GRCh37
NC_000005.8:g.60236216_60236219del	NCBI36
NG_009289.1:g.45454_45457del , LRG_466:g.45454_45457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+167_481+170del	ENSP00000408344.2:n.481+167_481+170del
ENST00000647431.2:c.582+167_582+170del	ENSP00000494726.2:n.582+167_582+170del
ENST00000647486.2:c.481+167_481+170del	ENSP00000494466.2:n.481+167_481+170del
ENST00000675042.2:c.307+167_307+170del	ENSP00000502082.2:n.307+167_307+170del
ENST00000675452.2:c.*446+167_*446+170del	ENSP00000506954.1:n.*446+167_*446+170del
ENST00000682217.1:c.481+167_481+170del	ENSP00000507570.1:n.481+167_481+170del
ENST00000682246.1:n.537+167_537+170del
ENST00000682375.1:c.*311+167_*311+170del	ENSP00000507551.1:n.*311+167_*311+170del
ENST00000683052.1:c.283+167_283+170del	ENSP00000507072.1:n.283+167_283+170del
ENST00000683199.1:n.503+167_503+170del
ENST00000683216.1:n.750+163_750+166del
ENST00000683460.1:c.*311+167_*311+170del	ENSP00000507820.1:n.*311+167_*311+170del
ENST00000684394.1:n.536+167_536+170del
ENST00000684453.1:n.531+167_531+170del
ENST00000684621.1:n.537+167_537+170del
ENST00000265038.10:c.481+167_481+170del	ENSP00000265038.6:n.481+167_481+170del
ENST00000497892.6:c.*279+167_*279+170del	ENSP00000501805.1:n.*279+167_*279+170del
ENST00000643034.1:c.*373+167_*373+170del	ENSP00000496080.1:n.*373+167_*373+170del
ENST00000643708.1:c.*311+167_*311+170del	ENSP00000494199.1:n.*311+167_*311+170del
ENST00000647431.1:c.533+167_533+170del
ENST00000647486.1:c.432+167_432+170del
ENST00000675042.1:c.307+167_307+170del	ENSP00000502082.1:n.307+167_307+170del
ENST00000675229.1:c.481+167_481+170del	ENSP00000502154.1:n.481+167_481+170del
ENST00000675378.1:c.481+167_481+170del	ENSP00000502535.1:n.481+167_481+170del
ENST00000675452.1:n.730+167_730+170del
ENST00000675920.1:n.1089+167_1089+170del
ENST00000676185.1:c.481+167_481+170del MANE Select	ENSP00000501614.1:n.481+167_481+170del
ENST00000265038.9:c.481+167_481+170del	ENSP00000265038.5:n.481+167_481+170del
ENST00000381118.7:c.*525+167_*525+170del	ENSP00000370510.3:n.*525+167_*525+170del
ENST00000439176.5:c.307+167_307+170del	ENSP00000408344.1:n.307+167_307+170del
ENST00000462279.5:n.326+167_326+170del
ENST00000484330.5:n.227-2117_227-2114del
ENST00000495985.5:n.258+163_258+166del
ENST00000497892.5:n.524+167_524+170del
NM_000082.3:c.481+167_481+170del , LRG_466t1:c.481+167_481+170del	NP_000073.1:n.481+167_481+170del
NM_001007233.2:c.307+167_307+170del	NP_001007234.1:n.307+167_307+170del
NM_001007234.2:c.481+167_481+170del	NP_001007235.1:n.481+167_481+170del
NM_001290285.1:c.23-909_23-906del	NP_001277214.1:n.23-909_23-906del
NM_001007234.3:c.481+167_481+170del	NP_001007235.1:n.481+167_481+170del
NM_000082.4:c.481+167_481+170del MANE Select	NP_000073.1:n.481+167_481+170del
NM_001007233.3:c.307+167_307+170del	NP_001007234.1:n.307+167_307+170del
NM_001290285.2:c.23-909_23-906del	NP_001277214.1:n.23-909_23-906del