Canonical Allele Identifier: CA812732268

Gene: ERCC8

Linked Data

• dbSNP Id: rs869039109
• gnomAD v3: 5-60904634-G-GTA
• gnomAD v4: 5-60904634-G-GTA
• MyVariant Identifiers: chr5:g.60200461_60200462insTA (hg19) ; chr5:g.60904634_60904635insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904683_60904684dup , CM000667.2:g.60904683_60904684dup	GRCh38
NC_000005.9:g.60200510_60200511dup , CM000667.1:g.60200510_60200511dup	GRCh37
NC_000005.8:g.60236267_60236268dup	NCBI36
NG_009289.1:g.45443_45444dup , LRG_466:g.45443_45444dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+156_481+157dup	ENSP00000408344.2:n.481+156_481+157dup
ENST00000647431.2:c.582+156_582+157dup	ENSP00000494726.2:n.582+156_582+157dup
ENST00000647486.2:c.481+156_481+157dup	ENSP00000494466.2:n.481+156_481+157dup
ENST00000675042.2:c.307+156_307+157dup	ENSP00000502082.2:n.307+156_307+157dup
ENST00000675452.2:c.*446+156_*446+157dup	ENSP00000506954.1:n.*446+156_*446+157dup
ENST00000682217.1:c.481+156_481+157dup	ENSP00000507570.1:n.481+156_481+157dup
ENST00000682246.1:n.537+156_537+157dup
ENST00000682375.1:c.*311+156_*311+157dup	ENSP00000507551.1:n.*311+156_*311+157dup
ENST00000683052.1:c.283+156_283+157dup	ENSP00000507072.1:n.283+156_283+157dup
ENST00000683199.1:n.503+156_503+157dup
ENST00000683216.1:n.750+152_750+153dup
ENST00000683460.1:c.*311+156_*311+157dup	ENSP00000507820.1:n.*311+156_*311+157dup
ENST00000684394.1:n.536+156_536+157dup
ENST00000684453.1:n.531+156_531+157dup
ENST00000684621.1:n.537+156_537+157dup
ENST00000265038.10:c.481+156_481+157dup	ENSP00000265038.6:n.481+156_481+157dup
ENST00000497892.6:c.*279+156_*279+157dup	ENSP00000501805.1:n.*279+156_*279+157dup
ENST00000643034.1:c.*373+156_*373+157dup	ENSP00000496080.1:n.*373+156_*373+157dup
ENST00000643708.1:c.*311+156_*311+157dup	ENSP00000494199.1:n.*311+156_*311+157dup
ENST00000647431.1:c.533+156_533+157dup
ENST00000647486.1:c.432+156_432+157dup
ENST00000675042.1:c.307+156_307+157dup	ENSP00000502082.1:n.307+156_307+157dup
ENST00000675229.1:c.481+156_481+157dup	ENSP00000502154.1:n.481+156_481+157dup
ENST00000675378.1:c.481+156_481+157dup	ENSP00000502535.1:n.481+156_481+157dup
ENST00000675452.1:n.730+156_730+157dup
ENST00000675920.1:n.1089+156_1089+157dup
ENST00000676185.1:c.481+156_481+157dup MANE Select	ENSP00000501614.1:n.481+156_481+157dup
ENST00000265038.9:c.481+156_481+157dup	ENSP00000265038.5:n.481+156_481+157dup
ENST00000381118.7:c.*525+156_*525+157dup	ENSP00000370510.3:n.*525+156_*525+157dup
ENST00000439176.5:c.307+156_307+157dup	ENSP00000408344.1:n.307+156_307+157dup
ENST00000462279.5:n.326+156_326+157dup
ENST00000484330.5:n.227-2128_227-2127dup
ENST00000495985.5:n.258+152_258+153dup
ENST00000497892.5:n.524+156_524+157dup
NM_000082.3:c.481+156_481+157dup , LRG_466t1:c.481+156_481+157dup	NP_000073.1:n.481+156_481+157dup
NM_001007233.2:c.307+156_307+157dup	NP_001007234.1:n.307+156_307+157dup
NM_001007234.2:c.481+156_481+157dup	NP_001007235.1:n.481+156_481+157dup
NM_001290285.1:c.23-920_23-919dup	NP_001277214.1:n.23-920_23-919dup
NM_001007234.3:c.481+156_481+157dup	NP_001007235.1:n.481+156_481+157dup
NM_000082.4:c.481+156_481+157dup MANE Select	NP_000073.1:n.481+156_481+157dup
NM_001007233.3:c.307+156_307+157dup	NP_001007234.1:n.307+156_307+157dup
NM_001290285.2:c.23-920_23-919dup	NP_001277214.1:n.23-920_23-919dup