Canonical Allele Identifier: CA2831039069

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357372_45357375del , CM000681.2:g.45357372_45357375del	GRCh38
NC_000019.9:g.45860630_45860633del , CM000681.1:g.45860630_45860633del	GRCh37
NC_000019.8:g.50552470_50552473del	NCBI36
NG_007067.2:g.18216_18219del , LRG_461:g.18216_18219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1378-1_1380del
ENST00000682414.1:c.1378-1_1380del
ENST00000682508.1:n.1407-1_1409del
ENST00000684218.1:c.*636-1_*638del
ENST00000684264.1:n.934-1_936del
ENST00000684407.1:c.1255-1_1257del
ENST00000684458.1:c.1308-1_1310del
ENST00000684468.1:n.1154-1_1156del
ENST00000391945.10:c.1378-1_1380del
ENST00000587376.6:c.501-1_503del
ENST00000646507.1:n.1475-1_1477del
ENST00000391941.6:c.1306-1_1308del
ENST00000391942.6:n.549-1_551del
ENST00000391944.7:c.1144-1_1146del
ENST00000391945.8:c.1378-1_1380del
ENST00000587376.5:c.501-1_503del
ENST00000588652.5:n.1466-1_1468del
NM_000400.3:c.1378-1_1380del , LRG_461t1:c.1378-1_1380del
XM_011526611.1:c.1300-1_1302del
XR_935763.1:n.1425-1_1427del
XM_011526611.2:c.1300-1_1302del
XM_017026467.1:c.1255-1_1257del
XR_001753633.2:n.1425-1_1427del
XR_001753634.2:n.1425-1_1427del
NM_000400.4:c.1378-1_1380del