Canonical Allele Identifier: CA1076601518

Gene: ERCC8

Linked Data

• dbSNP Id: rs1749009440
• gnomAD v3: 5-60904636-A-ATATATATATATATT
• gnomAD v4: 5-60904636-A-ATATATATATATATT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904649_60904650insTTATATATATATAT , CM000667.2:g.60904649_60904650insTTATATATATATAT	GRCh38
NC_000005.9:g.60200476_60200477insTTATATATATATAT , CM000667.1:g.60200476_60200477insTTATATATATATAT	GRCh37
NC_000005.8:g.60236233_60236234insTTATATATATATAT	NCBI36
NG_009289.1:g.45442_45443insAATATATATATATA , LRG_466:g.45442_45443insAATATATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+155_481+156insAATATATATATATA	ENSP00000408344.2:n.481+155_481+156insAATATATATATATA
ENST00000647431.2:c.582+155_582+156insAATATATATATATA	ENSP00000494726.2:n.582+155_582+156insAATATATATATATA
ENST00000647486.2:c.481+155_481+156insAATATATATATATA	ENSP00000494466.2:n.481+155_481+156insAATATATATATATA
ENST00000675042.2:c.307+155_307+156insAATATATATATATA	ENSP00000502082.2:n.307+155_307+156insAATATATATATATA
ENST00000675452.2:c.*446+155_*446+156insAATATATATATATA	ENSP00000506954.1:n.*446+155_*446+156insAATATATATATATA
ENST00000682217.1:c.481+155_481+156insAATATATATATATA	ENSP00000507570.1:n.481+155_481+156insAATATATATATATA
ENST00000682246.1:n.537+155_537+156insAATATATATATATA
ENST00000682375.1:c.*311+155_*311+156insAATATATATATATA	ENSP00000507551.1:n.*311+155_*311+156insAATATATATATATA
ENST00000683052.1:c.283+155_283+156insAATATATATATATA	ENSP00000507072.1:n.283+155_283+156insAATATATATATATA
ENST00000683199.1:n.503+155_503+156insAATATATATATATA
ENST00000683216.1:n.750+151_750+152insAATATATATATATA
ENST00000683460.1:c.*311+155_*311+156insAATATATATATATA	ENSP00000507820.1:n.*311+155_*311+156insAATATATATATATA
ENST00000684394.1:n.536+155_536+156insAATATATATATATA
ENST00000684453.1:n.531+155_531+156insAATATATATATATA
ENST00000684621.1:n.537+155_537+156insAATATATATATATA
ENST00000265038.10:c.481+155_481+156insAATATATATATATA	ENSP00000265038.6:n.481+155_481+156insAATATATATATATA
ENST00000497892.6:c.*279+155_*279+156insAATATATATATATA	ENSP00000501805.1:n.*279+155_*279+156insAATATATATATATA
ENST00000643034.1:c.*373+155_*373+156insAATATATATATATA	ENSP00000496080.1:n.*373+155_*373+156insAATATATATATATA
ENST00000643708.1:c.*311+155_*311+156insAATATATATATATA	ENSP00000494199.1:n.*311+155_*311+156insAATATATATATATA
ENST00000647431.1:c.533+155_533+156insAATATATATATATA
ENST00000647486.1:c.432+155_432+156insAATATATATATATA
ENST00000675042.1:c.307+155_307+156insAATATATATATATA	ENSP00000502082.1:n.307+155_307+156insAATATATATATATA
ENST00000675229.1:c.481+155_481+156insAATATATATATATA	ENSP00000502154.1:n.481+155_481+156insAATATATATATATA
ENST00000675378.1:c.481+155_481+156insAATATATATATATA	ENSP00000502535.1:n.481+155_481+156insAATATATATATATA
ENST00000675452.1:n.730+155_730+156insAATATATATATATA
ENST00000675920.1:n.1089+155_1089+156insAATATATATATATA
ENST00000676185.1:c.481+155_481+156insAATATATATATATA MANE Select	ENSP00000501614.1:n.481+155_481+156insAATATATATATATA
ENST00000265038.9:c.481+155_481+156insAATATATATATATA	ENSP00000265038.5:n.481+155_481+156insAATATATATATATA
ENST00000381118.7:c.*525+155_*525+156insAATATATATATATA	ENSP00000370510.3:n.*525+155_*525+156insAATATATATATATA
ENST00000439176.5:c.307+155_307+156insAATATATATATATA	ENSP00000408344.1:n.307+155_307+156insAATATATATATATA
ENST00000462279.5:n.326+155_326+156insAATATATATATATA
ENST00000484330.5:n.227-2129_227-2128insAATATATATATATA
ENST00000495985.5:n.258+151_258+152insAATATATATATATA
ENST00000497892.5:n.524+155_524+156insAATATATATATATA
NM_000082.3:c.481+155_481+156insAATATATATATATA , LRG_466t1:c.481+155_481+156insAATATATATATATA	NP_000073.1:n.481+155_481+156insAATATATATATATA
NM_001007233.2:c.307+155_307+156insAATATATATATATA	NP_001007234.1:n.307+155_307+156insAATATATATATATA
NM_001007234.2:c.481+155_481+156insAATATATATATATA	NP_001007235.1:n.481+155_481+156insAATATATATATATA
NM_001290285.1:c.23-921_23-920insAATATATATATATA	NP_001277214.1:n.23-921_23-920insAATATATATATATA
NM_001007234.3:c.481+155_481+156insAATATATATATATA	NP_001007235.1:n.481+155_481+156insAATATATATATATA
NM_000082.4:c.481+155_481+156insAATATATATATATA MANE Select	NP_000073.1:n.481+155_481+156insAATATATATATATA
NM_001007233.3:c.307+155_307+156insAATATATATATATA	NP_001007234.1:n.307+155_307+156insAATATATATATATA
NM_001290285.2:c.23-921_23-920insAATATATATATATA	NP_001277214.1:n.23-921_23-920insAATATATATATATA