Canonical Allele Identifier: CA559820731

Gene: ERCC8

Linked Data

• dbSNP Id: rs1181522228
• gnomAD v2: 5-60200439-A-AAT
• gnomAD v3: 5-60904612-A-AAT
• gnomAD v4: 5-60904612-A-AAT
• MyVariant Identifiers: chr5:g.60200439_60200440insAT (hg19) ; chr5:g.60904612_60904613insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904620_60904621dup , CM000667.2:g.60904620_60904621dup	GRCh38
NC_000005.9:g.60200447_60200448dup , CM000667.1:g.60200447_60200448dup	GRCh37
NC_000005.8:g.60236204_60236205dup	NCBI36
NG_009289.1:g.45465_45466dup , LRG_466:g.45465_45466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+178_481+179dup	ENSP00000408344.2:n.481+178_481+179dup
ENST00000647431.2:c.582+178_582+179dup	ENSP00000494726.2:n.582+178_582+179dup
ENST00000647486.2:c.481+178_481+179dup	ENSP00000494466.2:n.481+178_481+179dup
ENST00000675042.2:c.307+178_307+179dup	ENSP00000502082.2:n.307+178_307+179dup
ENST00000675452.2:c.*446+178_*446+179dup	ENSP00000506954.1:n.*446+178_*446+179dup
ENST00000682217.1:c.481+178_481+179dup	ENSP00000507570.1:n.481+178_481+179dup
ENST00000682246.1:n.537+178_537+179dup
ENST00000682375.1:c.*311+178_*311+179dup	ENSP00000507551.1:n.*311+178_*311+179dup
ENST00000683052.1:c.283+178_283+179dup	ENSP00000507072.1:n.283+178_283+179dup
ENST00000683199.1:n.503+178_503+179dup
ENST00000683216.1:n.750+174_750+175dup
ENST00000683460.1:c.*311+178_*311+179dup	ENSP00000507820.1:n.*311+178_*311+179dup
ENST00000684394.1:n.536+178_536+179dup
ENST00000684453.1:n.531+178_531+179dup
ENST00000684621.1:n.537+178_537+179dup
ENST00000265038.10:c.481+178_481+179dup	ENSP00000265038.6:n.481+178_481+179dup
ENST00000497892.6:c.*279+178_*279+179dup	ENSP00000501805.1:n.*279+178_*279+179dup
ENST00000643034.1:c.*373+178_*373+179dup	ENSP00000496080.1:n.*373+178_*373+179dup
ENST00000643708.1:c.*311+178_*311+179dup	ENSP00000494199.1:n.*311+178_*311+179dup
ENST00000647431.1:c.533+178_533+179dup
ENST00000647486.1:c.432+178_432+179dup
ENST00000675042.1:c.307+178_307+179dup	ENSP00000502082.1:n.307+178_307+179dup
ENST00000675229.1:c.481+178_481+179dup	ENSP00000502154.1:n.481+178_481+179dup
ENST00000675378.1:c.481+178_481+179dup	ENSP00000502535.1:n.481+178_481+179dup
ENST00000675452.1:n.730+178_730+179dup
ENST00000675920.1:n.1089+178_1089+179dup
ENST00000676185.1:c.481+178_481+179dup MANE Select	ENSP00000501614.1:n.481+178_481+179dup
ENST00000265038.9:c.481+178_481+179dup	ENSP00000265038.5:n.481+178_481+179dup
ENST00000381118.7:c.*525+178_*525+179dup	ENSP00000370510.3:n.*525+178_*525+179dup
ENST00000439176.5:c.307+178_307+179dup	ENSP00000408344.1:n.307+178_307+179dup
ENST00000462279.5:n.326+178_326+179dup
ENST00000484330.5:n.227-2106_227-2105dup
ENST00000495985.5:n.258+174_258+175dup
ENST00000497892.5:n.524+178_524+179dup
NM_000082.3:c.481+178_481+179dup , LRG_466t1:c.481+178_481+179dup	NP_000073.1:n.481+178_481+179dup
NM_001007233.2:c.307+178_307+179dup	NP_001007234.1:n.307+178_307+179dup
NM_001007234.2:c.481+178_481+179dup	NP_001007235.1:n.481+178_481+179dup
NM_001290285.1:c.23-898_23-897dup	NP_001277214.1:n.23-898_23-897dup
NM_001007234.3:c.481+178_481+179dup	NP_001007235.1:n.481+178_481+179dup
NM_000082.4:c.481+178_481+179dup MANE Select	NP_000073.1:n.481+178_481+179dup
NM_001007233.3:c.307+178_307+179dup	NP_001007234.1:n.307+178_307+179dup
NM_001290285.2:c.23-898_23-897dup	NP_001277214.1:n.23-898_23-897dup