Canonical Allele Identifier: CA812732060

Gene: ERCC8

Linked Data

• dbSNP Id: rs1462558492
• gnomAD v3: 5-60904630-GTGTGTATATATATATATA-G
• gnomAD v4: 5-60904630-GTGTGTATATATATATATA-G
• MyVariant Identifiers: chr5:g.60200458_60200475del (hg19) ; chr5:g.60904631_60904648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904632_60904649del , CM000667.2:g.60904632_60904649del	GRCh38
NC_000005.9:g.60200459_60200476del , CM000667.1:g.60200459_60200476del	GRCh37
NC_000005.8:g.60236216_60236233del	NCBI36
NG_009289.1:g.45431_45448del , LRG_466:g.45431_45448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+144_481+161del	ENSP00000408344.2:n.481+144_481+161del
ENST00000647431.2:c.582+144_582+161del	ENSP00000494726.2:n.582+144_582+161del
ENST00000647486.2:c.481+144_481+161del	ENSP00000494466.2:n.481+144_481+161del
ENST00000675042.2:c.307+144_307+161del	ENSP00000502082.2:n.307+144_307+161del
ENST00000675452.2:c.*446+144_*446+161del	ENSP00000506954.1:n.*446+144_*446+161del
ENST00000682217.1:c.481+144_481+161del	ENSP00000507570.1:n.481+144_481+161del
ENST00000682246.1:n.537+144_537+161del
ENST00000682375.1:c.*311+144_*311+161del	ENSP00000507551.1:n.*311+144_*311+161del
ENST00000683052.1:c.283+144_283+161del	ENSP00000507072.1:n.283+144_283+161del
ENST00000683199.1:n.503+144_503+161del
ENST00000683216.1:n.750+140_750+157del
ENST00000683460.1:c.*311+144_*311+161del	ENSP00000507820.1:n.*311+144_*311+161del
ENST00000684394.1:n.536+144_536+161del
ENST00000684453.1:n.531+144_531+161del
ENST00000684621.1:n.537+144_537+161del
ENST00000265038.10:c.481+144_481+161del	ENSP00000265038.6:n.481+144_481+161del
ENST00000497892.6:c.*279+144_*279+161del	ENSP00000501805.1:n.*279+144_*279+161del
ENST00000643034.1:c.*373+144_*373+161del	ENSP00000496080.1:n.*373+144_*373+161del
ENST00000643708.1:c.*311+144_*311+161del	ENSP00000494199.1:n.*311+144_*311+161del
ENST00000647431.1:c.533+144_533+161del
ENST00000647486.1:c.432+144_432+161del
ENST00000675042.1:c.307+144_307+161del	ENSP00000502082.1:n.307+144_307+161del
ENST00000675229.1:c.481+144_481+161del	ENSP00000502154.1:n.481+144_481+161del
ENST00000675378.1:c.481+144_481+161del	ENSP00000502535.1:n.481+144_481+161del
ENST00000675452.1:n.730+144_730+161del
ENST00000675920.1:n.1089+144_1089+161del
ENST00000676185.1:c.481+144_481+161del MANE Select	ENSP00000501614.1:n.481+144_481+161del
ENST00000265038.9:c.481+144_481+161del	ENSP00000265038.5:n.481+144_481+161del
ENST00000381118.7:c.*525+144_*525+161del	ENSP00000370510.3:n.*525+144_*525+161del
ENST00000439176.5:c.307+144_307+161del	ENSP00000408344.1:n.307+144_307+161del
ENST00000462279.5:n.326+144_326+161del
ENST00000484330.5:n.227-2140_227-2123del
ENST00000495985.5:n.258+140_258+157del
ENST00000497892.5:n.524+144_524+161del
NM_000082.3:c.481+144_481+161del , LRG_466t1:c.481+144_481+161del	NP_000073.1:n.481+144_481+161del
NM_001007233.2:c.307+144_307+161del	NP_001007234.1:n.307+144_307+161del
NM_001007234.2:c.481+144_481+161del	NP_001007235.1:n.481+144_481+161del
NM_001290285.1:c.23-932_23-915del	NP_001277214.1:n.23-932_23-915del
NM_001007234.3:c.481+144_481+161del	NP_001007235.1:n.481+144_481+161del
NM_000082.4:c.481+144_481+161del MANE Select	NP_000073.1:n.481+144_481+161del
NM_001007233.3:c.307+144_307+161del	NP_001007234.1:n.307+144_307+161del
NM_001290285.2:c.23-932_23-915del	NP_001277214.1:n.23-932_23-915del