Canonical Allele Identifier: CA3277846

Gene: ERCC8

Linked Data

• dbSNP Id: rs748481426
• ExAC: 5:60200651 GAC / G
• gnomAD v2: 5-60200651-GAC-G
• gnomAD v4: 5-60904824-GAC-G
• MyVariant Identifiers: chr5:g.60200652_60200653del (hg19) ; chr5:g.60904825_60904826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904826_60904827del , CM000667.2:g.60904826_60904827del	GRCh38
NC_000005.9:g.60200653_60200654del , CM000667.1:g.60200653_60200654del	GRCh37
NC_000005.8:g.60236410_60236411del	NCBI36
NG_009289.1:g.45253_45254del , LRG_466:g.45253_45254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.447_448del	ENSP00000408344.2:p.Met149IlefsTer15
ENST00000647431.2:c.548_549del	ENSP00000494726.2:n.548_549del
ENST00000647486.2:c.447_448del	ENSP00000494466.2:p.Met149IlefsTer15
ENST00000675042.2:c.273_274del	ENSP00000502082.2:p.Met91IlefsTer15
ENST00000675452.2:c.*412_*413del	ENSP00000506954.1:n.*412_*413del
ENST00000682217.1:c.447_448del	ENSP00000507570.1:p.Met149IlefsTer15
ENST00000682246.1:n.503_504del
ENST00000682375.1:c.*277_*278del	ENSP00000507551.1:n.*277_*278del
ENST00000683052.1:c.249_250del	ENSP00000507072.1:p.Met83IlefsTer15
ENST00000683199.1:n.469_470del
ENST00000683216.1:n.712_713del
ENST00000683460.1:c.*277_*278del	ENSP00000507820.1:n.*277_*278del
ENST00000684394.1:n.502_503del
ENST00000684453.1:n.497_498del
ENST00000684621.1:n.503_504del
ENST00000265038.10:c.447_448del	ENSP00000265038.6:p.Met149IlefsTer15
ENST00000497892.6:c.*245_*246del	ENSP00000501805.1:n.*245_*246del
ENST00000643034.1:c.*339_*340del	ENSP00000496080.1:n.*339_*340del
ENST00000643708.1:c.*277_*278del	ENSP00000494199.1:n.*277_*278del
ENST00000647431.1:c.499_500del
ENST00000647486.1:c.398_399del
ENST00000675042.1:c.273_274del	ENSP00000502082.1:p.Met91IlefsTer15
ENST00000675229.1:c.447_448del	ENSP00000502154.1:p.Met149IlefsTer15
ENST00000675378.1:c.447_448del	ENSP00000502535.1:p.Met149IlefsTer15
ENST00000675452.1:n.696_697del
ENST00000675920.1:n.1055_1056del
ENST00000676185.1:c.447_448del MANE Select	ENSP00000501614.1:p.Met149IlefsTer15
ENST00000265038.9:c.447_448del	ENSP00000265038.5:p.Met149IlefsTer15
ENST00000381118.7:c.*491_*492del	ENSP00000370510.3:n.*491_*492del
ENST00000439176.5:c.273_274del	ENSP00000408344.1:p.Met91IlefsTer15
ENST00000462279.5:n.292_293del
ENST00000484330.5:n.227-2318_227-2317del
ENST00000495985.5:n.220_221del
ENST00000497892.5:n.490_491del
NM_000082.3:c.447_448del , LRG_466t1:c.447_448del	NP_000073.1:p.Met149IlefsTer15
NM_001007233.2:c.273_274del	NP_001007234.1:p.Met91IlefsTer15
NM_001007234.2:c.447_448del	NP_001007235.1:p.Met149IlefsTer15
NM_001290285.1:c.23-1110_23-1109del	NP_001277214.1:n.23-1110_23-1109del
NM_001007234.3:c.447_448del	NP_001007235.1:p.Met149IlefsTer15
NM_000082.4:c.447_448del MANE Select	NP_000073.1:p.Met149IlefsTer15
NM_001007233.3:c.273_274del	NP_001007234.1:p.Met91IlefsTer15
NM_001290285.2:c.23-1110_23-1109del	NP_001277214.1:n.23-1110_23-1109del