Canonical Allele Identifier: CA1076601736

Gene: ERCC8

Linked Data

• dbSNP Id: rs1749018107
• gnomAD v3: 5-60904704-GGTTAAAAT-G
• gnomAD v4: 5-60904704-GGTTAAAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904707_60904714del , CM000667.2:g.60904707_60904714del	GRCh38
NC_000005.9:g.60200534_60200541del , CM000667.1:g.60200534_60200541del	GRCh37
NC_000005.8:g.60236291_60236298del	NCBI36
NG_009289.1:g.45367_45374del , LRG_466:g.45367_45374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+80_481+87del	ENSP00000408344.2:n.481+80_481+87del
ENST00000647431.2:c.582+80_582+87del	ENSP00000494726.2:n.582+80_582+87del
ENST00000647486.2:c.481+80_481+87del	ENSP00000494466.2:n.481+80_481+87del
ENST00000675042.2:c.307+80_307+87del	ENSP00000502082.2:n.307+80_307+87del
ENST00000675452.2:c.*446+80_*446+87del	ENSP00000506954.1:n.*446+80_*446+87del
ENST00000682217.1:c.481+80_481+87del	ENSP00000507570.1:n.481+80_481+87del
ENST00000682246.1:n.537+80_537+87del
ENST00000682375.1:c.*311+80_*311+87del	ENSP00000507551.1:n.*311+80_*311+87del
ENST00000683052.1:c.283+80_283+87del	ENSP00000507072.1:n.283+80_283+87del
ENST00000683199.1:n.503+80_503+87del
ENST00000683216.1:n.750+76_750+83del
ENST00000683460.1:c.*311+80_*311+87del	ENSP00000507820.1:n.*311+80_*311+87del
ENST00000684394.1:n.536+80_536+87del
ENST00000684453.1:n.531+80_531+87del
ENST00000684621.1:n.537+80_537+87del
ENST00000265038.10:c.481+80_481+87del	ENSP00000265038.6:n.481+80_481+87del
ENST00000497892.6:c.*279+80_*279+87del	ENSP00000501805.1:n.*279+80_*279+87del
ENST00000643034.1:c.*373+80_*373+87del	ENSP00000496080.1:n.*373+80_*373+87del
ENST00000643708.1:c.*311+80_*311+87del	ENSP00000494199.1:n.*311+80_*311+87del
ENST00000647431.1:c.533+80_533+87del
ENST00000647486.1:c.432+80_432+87del
ENST00000675042.1:c.307+80_307+87del	ENSP00000502082.1:n.307+80_307+87del
ENST00000675229.1:c.481+80_481+87del	ENSP00000502154.1:n.481+80_481+87del
ENST00000675378.1:c.481+80_481+87del	ENSP00000502535.1:n.481+80_481+87del
ENST00000675452.1:n.730+80_730+87del
ENST00000675920.1:n.1089+80_1089+87del
ENST00000676185.1:c.481+80_481+87del MANE Select	ENSP00000501614.1:n.481+80_481+87del
ENST00000265038.9:c.481+80_481+87del	ENSP00000265038.5:n.481+80_481+87del
ENST00000381118.7:c.*525+80_*525+87del	ENSP00000370510.3:n.*525+80_*525+87del
ENST00000439176.5:c.307+80_307+87del	ENSP00000408344.1:n.307+80_307+87del
ENST00000462279.5:n.326+80_326+87del
ENST00000484330.5:n.227-2204_227-2197del
ENST00000495985.5:n.258+76_258+83del
ENST00000497892.5:n.524+80_524+87del
NM_000082.3:c.481+80_481+87del , LRG_466t1:c.481+80_481+87del	NP_000073.1:n.481+80_481+87del
NM_001007233.2:c.307+80_307+87del	NP_001007234.1:n.307+80_307+87del
NM_001007234.2:c.481+80_481+87del	NP_001007235.1:n.481+80_481+87del
NM_001290285.1:c.23-996_23-989del	NP_001277214.1:n.23-996_23-989del
NM_001007234.3:c.481+80_481+87del	NP_001007235.1:n.481+80_481+87del
NM_000082.4:c.481+80_481+87del MANE Select	NP_000073.1:n.481+80_481+87del
NM_001007233.3:c.307+80_307+87del	NP_001007234.1:n.307+80_307+87del
NM_001290285.2:c.23-996_23-989del	NP_001277214.1:n.23-996_23-989del