Canonical Allele Identifier: CA2673964998

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904663-TATATATATATATATATATATAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904666_60904688del , CM000667.2:g.60904666_60904688del	GRCh38
NC_000005.9:g.60200493_60200515del , CM000667.1:g.60200493_60200515del	GRCh37
NC_000005.8:g.60236250_60236272del	NCBI36
NG_009289.1:g.45393_45415del , LRG_466:g.45393_45415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+106_481+128del	ENSP00000408344.2:n.481+106_481+128del
ENST00000647431.2:c.582+106_582+128del	ENSP00000494726.2:n.582+106_582+128del
ENST00000647486.2:c.481+106_481+128del	ENSP00000494466.2:n.481+106_481+128del
ENST00000675042.2:c.307+106_307+128del	ENSP00000502082.2:n.307+106_307+128del
ENST00000675452.2:c.*446+106_*446+128del	ENSP00000506954.1:n.*446+106_*446+128del
ENST00000682217.1:c.481+106_481+128del	ENSP00000507570.1:n.481+106_481+128del
ENST00000682246.1:n.537+106_537+128del
ENST00000682375.1:c.*311+106_*311+128del	ENSP00000507551.1:n.*311+106_*311+128del
ENST00000683052.1:c.283+106_283+128del	ENSP00000507072.1:n.283+106_283+128del
ENST00000683199.1:n.503+106_503+128del
ENST00000683216.1:n.750+102_750+124del
ENST00000683460.1:c.*311+106_*311+128del	ENSP00000507820.1:n.*311+106_*311+128del
ENST00000684394.1:n.536+106_536+128del
ENST00000684453.1:n.531+106_531+128del
ENST00000684621.1:n.537+106_537+128del
ENST00000265038.10:c.481+106_481+128del	ENSP00000265038.6:n.481+106_481+128del
ENST00000497892.6:c.*279+106_*279+128del	ENSP00000501805.1:n.*279+106_*279+128del
ENST00000643034.1:c.*373+106_*373+128del	ENSP00000496080.1:n.*373+106_*373+128del
ENST00000643708.1:c.*311+106_*311+128del	ENSP00000494199.1:n.*311+106_*311+128del
ENST00000647431.1:c.533+106_533+128del
ENST00000647486.1:c.432+106_432+128del
ENST00000675042.1:c.307+106_307+128del	ENSP00000502082.1:n.307+106_307+128del
ENST00000675229.1:c.481+106_481+128del	ENSP00000502154.1:n.481+106_481+128del
ENST00000675378.1:c.481+106_481+128del	ENSP00000502535.1:n.481+106_481+128del
ENST00000675452.1:n.730+106_730+128del
ENST00000675920.1:n.1089+106_1089+128del
ENST00000676185.1:c.481+106_481+128del MANE Select	ENSP00000501614.1:n.481+106_481+128del
ENST00000265038.9:c.481+106_481+128del	ENSP00000265038.5:n.481+106_481+128del
ENST00000381118.7:c.*525+106_*525+128del	ENSP00000370510.3:n.*525+106_*525+128del
ENST00000439176.5:c.307+106_307+128del	ENSP00000408344.1:n.307+106_307+128del
ENST00000462279.5:n.326+106_326+128del
ENST00000484330.5:n.227-2178_227-2156del
ENST00000495985.5:n.258+102_258+124del
ENST00000497892.5:n.524+106_524+128del
NM_000082.3:c.481+106_481+128del , LRG_466t1:c.481+106_481+128del	NP_000073.1:n.481+106_481+128del
NM_001007233.2:c.307+106_307+128del	NP_001007234.1:n.307+106_307+128del
NM_001007234.2:c.481+106_481+128del	NP_001007235.1:n.481+106_481+128del
NM_001290285.1:c.23-970_23-948del	NP_001277214.1:n.23-970_23-948del
NM_001007234.3:c.481+106_481+128del	NP_001007235.1:n.481+106_481+128del
NM_000082.4:c.481+106_481+128del MANE Select	NP_000073.1:n.481+106_481+128del
NM_001007233.3:c.307+106_307+128del	NP_001007234.1:n.307+106_307+128del
NM_001290285.2:c.23-970_23-948del	NP_001277214.1:n.23-970_23-948del