Canonical Allele Identifier: CA559820777

Gene: ERCC8

Linked Data

• dbSNP Id: rs1561504265
• gnomAD v2: 5-60200489-A-ATG
• gnomAD v3: 5-60904662-A-ATG
• gnomAD v4: 5-60904662-A-ATG
• MyVariant Identifiers: chr5:g.60200489_60200490insTG (hg19) ; chr5:g.60904662_60904663insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904663_60904664insGT , CM000667.2:g.60904663_60904664insGT	GRCh38
NC_000005.9:g.60200490_60200491insGT , CM000667.1:g.60200490_60200491insGT	GRCh37
NC_000005.8:g.60236247_60236248insGT	NCBI36
NG_009289.1:g.45416_45417insCA , LRG_466:g.45416_45417insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+129_481+130insCA	ENSP00000408344.2:n.481+129_481+130insCA
ENST00000647431.2:c.582+129_582+130insCA	ENSP00000494726.2:n.582+129_582+130insCA
ENST00000647486.2:c.481+129_481+130insCA	ENSP00000494466.2:n.481+129_481+130insCA
ENST00000675042.2:c.307+129_307+130insCA	ENSP00000502082.2:n.307+129_307+130insCA
ENST00000675452.2:c.*446+129_*446+130insCA	ENSP00000506954.1:n.*446+129_*446+130insCA
ENST00000682217.1:c.481+129_481+130insCA	ENSP00000507570.1:n.481+129_481+130insCA
ENST00000682246.1:n.537+129_537+130insCA
ENST00000682375.1:c.*311+129_*311+130insCA	ENSP00000507551.1:n.*311+129_*311+130insCA
ENST00000683052.1:c.283+129_283+130insCA	ENSP00000507072.1:n.283+129_283+130insCA
ENST00000683199.1:n.503+129_503+130insCA
ENST00000683216.1:n.750+125_750+126insCA
ENST00000683460.1:c.*311+129_*311+130insCA	ENSP00000507820.1:n.*311+129_*311+130insCA
ENST00000684394.1:n.536+129_536+130insCA
ENST00000684453.1:n.531+129_531+130insCA
ENST00000684621.1:n.537+129_537+130insCA
ENST00000265038.10:c.481+129_481+130insCA	ENSP00000265038.6:n.481+129_481+130insCA
ENST00000497892.6:c.*279+129_*279+130insCA	ENSP00000501805.1:n.*279+129_*279+130insCA
ENST00000643034.1:c.*373+129_*373+130insCA	ENSP00000496080.1:n.*373+129_*373+130insCA
ENST00000643708.1:c.*311+129_*311+130insCA	ENSP00000494199.1:n.*311+129_*311+130insCA
ENST00000647431.1:c.533+129_533+130insCA
ENST00000647486.1:c.432+129_432+130insCA
ENST00000675042.1:c.307+129_307+130insCA	ENSP00000502082.1:n.307+129_307+130insCA
ENST00000675229.1:c.481+129_481+130insCA	ENSP00000502154.1:n.481+129_481+130insCA
ENST00000675378.1:c.481+129_481+130insCA	ENSP00000502535.1:n.481+129_481+130insCA
ENST00000675452.1:n.730+129_730+130insCA
ENST00000675920.1:n.1089+129_1089+130insCA
ENST00000676185.1:c.481+129_481+130insCA MANE Select	ENSP00000501614.1:n.481+129_481+130insCA
ENST00000265038.9:c.481+129_481+130insCA	ENSP00000265038.5:n.481+129_481+130insCA
ENST00000381118.7:c.*525+129_*525+130insCA	ENSP00000370510.3:n.*525+129_*525+130insCA
ENST00000439176.5:c.307+129_307+130insCA	ENSP00000408344.1:n.307+129_307+130insCA
ENST00000462279.5:n.326+129_326+130insCA
ENST00000484330.5:n.227-2155_227-2154insCA
ENST00000495985.5:n.258+125_258+126insCA
ENST00000497892.5:n.524+129_524+130insCA
NM_000082.3:c.481+129_481+130insCA , LRG_466t1:c.481+129_481+130insCA	NP_000073.1:n.481+129_481+130insCA
NM_001007233.2:c.307+129_307+130insCA	NP_001007234.1:n.307+129_307+130insCA
NM_001007234.2:c.481+129_481+130insCA	NP_001007235.1:n.481+129_481+130insCA
NM_001290285.1:c.23-947_23-946insCA	NP_001277214.1:n.23-947_23-946insCA
NM_001007234.3:c.481+129_481+130insCA	NP_001007235.1:n.481+129_481+130insCA
NM_000082.4:c.481+129_481+130insCA MANE Select	NP_000073.1:n.481+129_481+130insCA
NM_001007233.3:c.307+129_307+130insCA	NP_001007234.1:n.307+129_307+130insCA
NM_001290285.2:c.23-947_23-946insCA	NP_001277214.1:n.23-947_23-946insCA