Canonical Allele Identifier: CA559820763

Gene: ERCC8

Linked Data

• dbSNP Id: rs1221033443
• gnomAD v2: 5-60200471-A-ATATATT
• gnomAD v3: 5-60904644-A-ATATATT
• gnomAD v4: 5-60904644-A-ATATATT
• MyVariant Identifiers: chr5:g.60200471_60200472insTATATT (hg19) ; chr5:g.60904644_60904645insTATATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904649_60904650insTTATAT , CM000667.2:g.60904649_60904650insTTATAT	GRCh38
NC_000005.9:g.60200476_60200477insTTATAT , CM000667.1:g.60200476_60200477insTTATAT	GRCh37
NC_000005.8:g.60236233_60236234insTTATAT	NCBI36
NG_009289.1:g.45434_45435insAATATA , LRG_466:g.45434_45435insAATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+147_481+148insAATATA	ENSP00000408344.2:n.481+147_481+148insAATATA
ENST00000647431.2:c.582+147_582+148insAATATA	ENSP00000494726.2:n.582+147_582+148insAATATA
ENST00000647486.2:c.481+147_481+148insAATATA	ENSP00000494466.2:n.481+147_481+148insAATATA
ENST00000675042.2:c.307+147_307+148insAATATA	ENSP00000502082.2:n.307+147_307+148insAATATA
ENST00000675452.2:c.*446+147_*446+148insAATATA	ENSP00000506954.1:n.*446+147_*446+148insAATATA
ENST00000682217.1:c.481+147_481+148insAATATA	ENSP00000507570.1:n.481+147_481+148insAATATA
ENST00000682246.1:n.537+147_537+148insAATATA
ENST00000682375.1:c.*311+147_*311+148insAATATA	ENSP00000507551.1:n.*311+147_*311+148insAATATA
ENST00000683052.1:c.283+147_283+148insAATATA	ENSP00000507072.1:n.283+147_283+148insAATATA
ENST00000683199.1:n.503+147_503+148insAATATA
ENST00000683216.1:n.750+143_750+144insAATATA
ENST00000683460.1:c.*311+147_*311+148insAATATA	ENSP00000507820.1:n.*311+147_*311+148insAATATA
ENST00000684394.1:n.536+147_536+148insAATATA
ENST00000684453.1:n.531+147_531+148insAATATA
ENST00000684621.1:n.537+147_537+148insAATATA
ENST00000265038.10:c.481+147_481+148insAATATA	ENSP00000265038.6:n.481+147_481+148insAATATA
ENST00000497892.6:c.*279+147_*279+148insAATATA	ENSP00000501805.1:n.*279+147_*279+148insAATATA
ENST00000643034.1:c.*373+147_*373+148insAATATA	ENSP00000496080.1:n.*373+147_*373+148insAATATA
ENST00000643708.1:c.*311+147_*311+148insAATATA	ENSP00000494199.1:n.*311+147_*311+148insAATATA
ENST00000647431.1:c.533+147_533+148insAATATA
ENST00000647486.1:c.432+147_432+148insAATATA
ENST00000675042.1:c.307+147_307+148insAATATA	ENSP00000502082.1:n.307+147_307+148insAATATA
ENST00000675229.1:c.481+147_481+148insAATATA	ENSP00000502154.1:n.481+147_481+148insAATATA
ENST00000675378.1:c.481+147_481+148insAATATA	ENSP00000502535.1:n.481+147_481+148insAATATA
ENST00000675452.1:n.730+147_730+148insAATATA
ENST00000675920.1:n.1089+147_1089+148insAATATA
ENST00000676185.1:c.481+147_481+148insAATATA MANE Select	ENSP00000501614.1:n.481+147_481+148insAATATA
ENST00000265038.9:c.481+147_481+148insAATATA	ENSP00000265038.5:n.481+147_481+148insAATATA
ENST00000381118.7:c.*525+147_*525+148insAATATA	ENSP00000370510.3:n.*525+147_*525+148insAATATA
ENST00000439176.5:c.307+147_307+148insAATATA	ENSP00000408344.1:n.307+147_307+148insAATATA
ENST00000462279.5:n.326+147_326+148insAATATA
ENST00000484330.5:n.227-2137_227-2136insAATATA
ENST00000495985.5:n.258+143_258+144insAATATA
ENST00000497892.5:n.524+147_524+148insAATATA
NM_000082.3:c.481+147_481+148insAATATA , LRG_466t1:c.481+147_481+148insAATATA	NP_000073.1:n.481+147_481+148insAATATA
NM_001007233.2:c.307+147_307+148insAATATA	NP_001007234.1:n.307+147_307+148insAATATA
NM_001007234.2:c.481+147_481+148insAATATA	NP_001007235.1:n.481+147_481+148insAATATA
NM_001290285.1:c.23-929_23-928insAATATA	NP_001277214.1:n.23-929_23-928insAATATA
NM_001007234.3:c.481+147_481+148insAATATA	NP_001007235.1:n.481+147_481+148insAATATA
NM_000082.4:c.481+147_481+148insAATATA MANE Select	NP_000073.1:n.481+147_481+148insAATATA
NM_001007233.3:c.307+147_307+148insAATATA	NP_001007234.1:n.307+147_307+148insAATATA
NM_001290285.2:c.23-929_23-928insAATATA	NP_001277214.1:n.23-929_23-928insAATATA