Canonical Allele Identifier: CA444468277

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 1244348
• ClinVar RCV Id: RCV001655941
• dbSNP Id: rs1262720315
• gnomAD v2: 5-60200455-GTGTGTGTATATATATATATATATA-G
• gnomAD v3: 5-60904628-GTGTGTGTATATATATATATATATA-G
• gnomAD v4: 5-60904628-GTGTGTGTATATATATATATATATA-G
• MyVariant Identifiers: chr5:g.60200456_60200479del (hg19) ; chr5:g.60200457_60200485delinsATATA (hg19) ; chr5:g.60904629_60904652del (hg38) ; chr5:g.60904630_60904658delinsATATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904630_60904653del , CM000667.2:g.60904630_60904653del	GRCh38
NC_000005.9:g.60200457_60200480del , CM000667.1:g.60200457_60200480del	GRCh37
NC_000005.8:g.60236214_60236237del	NCBI36
NG_009289.1:g.45427_45450del , LRG_466:g.45427_45450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+140_481+163del	ENSP00000408344.2:n.481+140_481+163del
ENST00000647431.2:c.582+140_582+163del	ENSP00000494726.2:n.582+140_582+163del
ENST00000647486.2:c.481+140_481+163del	ENSP00000494466.2:n.481+140_481+163del
ENST00000675042.2:c.307+140_307+163del	ENSP00000502082.2:n.307+140_307+163del
ENST00000675452.2:c.*446+140_*446+163del	ENSP00000506954.1:n.*446+140_*446+163del
ENST00000682217.1:c.481+140_481+163del	ENSP00000507570.1:n.481+140_481+163del
ENST00000682246.1:n.537+140_537+163del
ENST00000682375.1:c.*311+140_*311+163del	ENSP00000507551.1:n.*311+140_*311+163del
ENST00000683052.1:c.283+140_283+163del	ENSP00000507072.1:n.283+140_283+163del
ENST00000683199.1:n.503+140_503+163del
ENST00000683216.1:n.750+136_750+159del
ENST00000683460.1:c.*311+140_*311+163del	ENSP00000507820.1:n.*311+140_*311+163del
ENST00000684394.1:n.536+140_536+163del
ENST00000684453.1:n.531+140_531+163del
ENST00000684621.1:n.537+140_537+163del
ENST00000265038.10:c.481+140_481+163del	ENSP00000265038.6:n.481+140_481+163del
ENST00000497892.6:c.*279+140_*279+163del	ENSP00000501805.1:n.*279+140_*279+163del
ENST00000643034.1:c.*373+140_*373+163del	ENSP00000496080.1:n.*373+140_*373+163del
ENST00000643708.1:c.*311+140_*311+163del	ENSP00000494199.1:n.*311+140_*311+163del
ENST00000647431.1:c.533+140_533+163del
ENST00000647486.1:c.432+140_432+163del
ENST00000675042.1:c.307+140_307+163del	ENSP00000502082.1:n.307+140_307+163del
ENST00000675229.1:c.481+140_481+163del	ENSP00000502154.1:n.481+140_481+163del
ENST00000675378.1:c.481+140_481+163del	ENSP00000502535.1:n.481+140_481+163del
ENST00000675452.1:n.730+140_730+163del
ENST00000675920.1:n.1089+140_1089+163del
ENST00000676185.1:c.481+140_481+163del MANE Select	ENSP00000501614.1:n.481+140_481+163del
ENST00000265038.9:c.481+140_481+163del	ENSP00000265038.5:n.481+140_481+163del
ENST00000381118.7:c.*525+140_*525+163del	ENSP00000370510.3:n.*525+140_*525+163del
ENST00000439176.5:c.307+140_307+163del	ENSP00000408344.1:n.307+140_307+163del
ENST00000462279.5:n.326+140_326+163del
ENST00000484330.5:n.227-2144_227-2121del
ENST00000495985.5:n.258+136_258+159del
ENST00000497892.5:n.524+140_524+163del
NM_000082.3:c.481+140_481+163del , LRG_466t1:c.481+140_481+163del	NP_000073.1:n.481+140_481+163del
NM_001007233.2:c.307+140_307+163del	NP_001007234.1:n.307+140_307+163del
NM_001007234.2:c.481+140_481+163del	NP_001007235.1:n.481+140_481+163del
NM_001290285.1:c.23-936_23-913del	NP_001277214.1:n.23-936_23-913del
NM_001007234.3:c.481+140_481+163del	NP_001007235.1:n.481+140_481+163del
NM_000082.4:c.481+140_481+163del MANE Select	NP_000073.1:n.481+140_481+163del
NM_001007233.3:c.307+140_307+163del	NP_001007234.1:n.307+140_307+163del
NM_001290285.2:c.23-936_23-913del	NP_001277214.1:n.23-936_23-913del