Canonical Allele Identifier: CA2554485467

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60927598_60927599insTTTTTAAT , CM000667.2:g.60927598_60927599insTTTTTAAT	GRCh38
NC_000005.9:g.60223425_60223426insTTTTTAAT , CM000667.1:g.60223425_60223426insTTTTTAAT	GRCh37
NC_000005.8:g.60259182_60259183insTTTTTAAT	NCBI36
NG_009289.1:g.22481_22482insTTAAAAAA , LRG_466:g.22481_22482insTTAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.173+1266_173+1267insTTAAAAAA	ENSP00000408344.2:n.173+1266_173+1267insTTAAAAAA
ENST00000647431.2:c.173+1266_173+1267insTTAAAAAA	ENSP00000494726.2:n.173+1266_173+1267insTTAAAAAA
ENST00000647486.2:c.173+1266_173+1267insTTAAAAAA	ENSP00000494466.2:n.173+1266_173+1267insTTAAAAAA
ENST00000675042.2:c.-2+1266_-2+1267insTTAAAAAA	ENSP00000502082.2:n.-2+1266_-2+1267insTTAAAAAA
ENST00000675452.2:c.173+1266_173+1267insTTAAAAAA	ENSP00000506954.1:n.173+1266_173+1267insTTAAAAAA
ENST00000682041.1:n.1489_1490insTTAAAAAA
ENST00000682217.1:c.173+1266_173+1267insTTAAAAAA	ENSP00000507570.1:n.173+1266_173+1267insTTAAAAAA
ENST00000682246.1:n.229+1266_229+1267insTTAAAAAA
ENST00000682375.1:c.-2+1266_-2+1267insTTAAAAAA	ENSP00000507551.1:n.-2+1266_-2+1267insTTAAAAAA
ENST00000682380.1:n.229+1266_229+1267insTTAAAAAA
ENST00000682418.1:n.229+1266_229+1267insTTAAAAAA
ENST00000682874.1:n.513_514insTTAAAAAA
ENST00000683052.1:c.78-9210_78-9209insTTAAAAAA	ENSP00000507072.1:n.78-9210_78-9209insTTAAAAAA
ENST00000683199.1:n.195+1266_195+1267insTTAAAAAA
ENST00000683460.1:c.173+1266_173+1267insTTAAAAAA	ENSP00000507820.1:n.173+1266_173+1267insTTAAAAAA
ENST00000684394.1:n.228+1266_228+1267insTTAAAAAA
ENST00000684453.1:n.223+1266_223+1267insTTAAAAAA
ENST00000684621.1:n.229+1266_229+1267insTTAAAAAA
ENST00000265038.10:c.173+1266_173+1267insTTAAAAAA	ENSP00000265038.6:n.173+1266_173+1267insTTAAAAAA
ENST00000497892.6:c.173+1266_173+1267insTTAAAAAA	ENSP00000501805.1:n.173+1266_173+1267insTTAAAAAA
ENST00000643034.1:c.173+1266_173+1267insTTAAAAAA	ENSP00000496080.1:n.173+1266_173+1267insTTAAAAAA
ENST00000643708.1:c.173+1266_173+1267insTTAAAAAA	ENSP00000494199.1:n.173+1266_173+1267insTTAAAAAA
ENST00000647431.1:c.124+1266_124+1267insTTAAAAAA
ENST00000647486.1:c.124+1266_124+1267insTTAAAAAA
ENST00000675042.1:c.-2+1266_-2+1267insTTAAAAAA	ENSP00000502082.1:n.-2+1266_-2+1267insTTAAAAAA
ENST00000675229.1:c.173+1266_173+1267insTTAAAAAA	ENSP00000502154.1:n.173+1266_173+1267insTTAAAAAA
ENST00000675378.1:c.173+1266_173+1267insTTAAAAAA	ENSP00000502535.1:n.173+1266_173+1267insTTAAAAAA
ENST00000675920.1:n.476_477insTTAAAAAA
ENST00000676185.1:c.173+1266_173+1267insTTAAAAAA MANE Select	ENSP00000501614.1:n.173+1266_173+1267insTTAAAAAA
ENST00000265038.9:c.173+1266_173+1267insTTAAAAAA	ENSP00000265038.5:n.173+1266_173+1267insTTAAAAAA
ENST00000381118.7:c.173+1266_173+1267insTTAAAAAA	ENSP00000370510.3:n.173+1266_173+1267insTTAAAAAA
ENST00000439176.5:c.-2+1266_-2+1267insTTAAAAAA	ENSP00000408344.1:n.-2+1266_-2+1267insTTAAAAAA
ENST00000477893.1:n.224+1266_224+1267insTTAAAAAA
ENST00000497892.5:n.216+1266_216+1267insTTAAAAAA
NM_000082.3:c.173+1266_173+1267insTTAAAAAA , LRG_466t1:c.173+1266_173+1267insTTAAAAAA	NP_000073.1:n.173+1266_173+1267insTTAAAAAA
NM_001007233.2:c.-220+1266_-220+1267insTTAAAAAA	NP_001007234.1:n.-220+1266_-220+1267insTTAAAAAA
NM_001007234.2:c.173+1266_173+1267insTTAAAAAA	NP_001007235.1:n.173+1266_173+1267insTTAAAAAA
NM_001290285.1:c.-205+1266_-205+1267insTTAAAAAA	NP_001277214.1:n.-205+1266_-205+1267insTTAAAAAA
NM_001007234.3:c.173+1266_173+1267insTTAAAAAA	NP_001007235.1:n.173+1266_173+1267insTTAAAAAA
NM_000082.4:c.173+1266_173+1267insTTAAAAAA MANE Select	NP_000073.1:n.173+1266_173+1267insTTAAAAAA
NM_001007233.3:c.-220+1266_-220+1267insTTAAAAAA	NP_001007234.1:n.-220+1266_-220+1267insTTAAAAAA
NM_001290285.2:c.-205+1266_-205+1267insTTAAAAAA	NP_001277214.1:n.-205+1266_-205+1267insTTAAAAAA