Canonical Allele Identifier: CA1076601709

Gene: ERCC8

Linked Data

• gnomAD v3: 5-60904685-A-AT
• gnomAD v4: 5-60904685-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904685_60904686insT , CM000667.2:g.60904685_60904686insT	GRCh38
NC_000005.9:g.60200512_60200513insT , CM000667.1:g.60200512_60200513insT	GRCh37
NC_000005.8:g.60236269_60236270insT	NCBI36
NG_009289.1:g.45393_45394insA , LRG_466:g.45393_45394insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+106_481+107insA	ENSP00000408344.2:n.481+106_481+107insA
ENST00000647431.2:c.582+106_582+107insA	ENSP00000494726.2:n.582+106_582+107insA
ENST00000647486.2:c.481+106_481+107insA	ENSP00000494466.2:n.481+106_481+107insA
ENST00000675042.2:c.307+106_307+107insA	ENSP00000502082.2:n.307+106_307+107insA
ENST00000675452.2:c.*446+106_*446+107insA	ENSP00000506954.1:n.*446+106_*446+107insA
ENST00000682217.1:c.481+106_481+107insA	ENSP00000507570.1:n.481+106_481+107insA
ENST00000682246.1:n.537+106_537+107insA
ENST00000682375.1:c.*311+106_*311+107insA	ENSP00000507551.1:n.*311+106_*311+107insA
ENST00000683052.1:c.283+106_283+107insA	ENSP00000507072.1:n.283+106_283+107insA
ENST00000683199.1:n.503+106_503+107insA
ENST00000683216.1:n.750+102_750+103insA
ENST00000683460.1:c.*311+106_*311+107insA	ENSP00000507820.1:n.*311+106_*311+107insA
ENST00000684394.1:n.536+106_536+107insA
ENST00000684453.1:n.531+106_531+107insA
ENST00000684621.1:n.537+106_537+107insA
ENST00000265038.10:c.481+106_481+107insA	ENSP00000265038.6:n.481+106_481+107insA
ENST00000497892.6:c.*279+106_*279+107insA	ENSP00000501805.1:n.*279+106_*279+107insA
ENST00000643034.1:c.*373+106_*373+107insA	ENSP00000496080.1:n.*373+106_*373+107insA
ENST00000643708.1:c.*311+106_*311+107insA	ENSP00000494199.1:n.*311+106_*311+107insA
ENST00000647431.1:c.533+106_533+107insA
ENST00000647486.1:c.432+106_432+107insA
ENST00000675042.1:c.307+106_307+107insA	ENSP00000502082.1:n.307+106_307+107insA
ENST00000675229.1:c.481+106_481+107insA	ENSP00000502154.1:n.481+106_481+107insA
ENST00000675378.1:c.481+106_481+107insA	ENSP00000502535.1:n.481+106_481+107insA
ENST00000675452.1:n.730+106_730+107insA
ENST00000675920.1:n.1089+106_1089+107insA
ENST00000676185.1:c.481+106_481+107insA MANE Select	ENSP00000501614.1:n.481+106_481+107insA
ENST00000265038.9:c.481+106_481+107insA	ENSP00000265038.5:n.481+106_481+107insA
ENST00000381118.7:c.*525+106_*525+107insA	ENSP00000370510.3:n.*525+106_*525+107insA
ENST00000439176.5:c.307+106_307+107insA	ENSP00000408344.1:n.307+106_307+107insA
ENST00000462279.5:n.326+106_326+107insA
ENST00000484330.5:n.227-2178_227-2177insA
ENST00000495985.5:n.258+102_258+103insA
ENST00000497892.5:n.524+106_524+107insA
NM_000082.3:c.481+106_481+107insA , LRG_466t1:c.481+106_481+107insA	NP_000073.1:n.481+106_481+107insA
NM_001007233.2:c.307+106_307+107insA	NP_001007234.1:n.307+106_307+107insA
NM_001007234.2:c.481+106_481+107insA	NP_001007235.1:n.481+106_481+107insA
NM_001290285.1:c.23-970_23-969insA	NP_001277214.1:n.23-970_23-969insA
NM_001007234.3:c.481+106_481+107insA	NP_001007235.1:n.481+106_481+107insA
NM_000082.4:c.481+106_481+107insA MANE Select	NP_000073.1:n.481+106_481+107insA
NM_001007233.3:c.307+106_307+107insA	NP_001007234.1:n.307+106_307+107insA
NM_001290285.2:c.23-970_23-969insA	NP_001277214.1:n.23-970_23-969insA