Canonical Allele Identifier: CA2581463435

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351629_45358912del , CM000681.2:g.45351629_45358912del	GRCh38
NC_000019.9:g.45854887_45862170del , CM000681.1:g.45854887_45862170del	GRCh37
NC_000019.8:g.50546727_50554010del	NCBI36
NG_007067.2:g.16677_23960del , LRG_461:g.16677_23960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1238-1212_*281del
ENST00000682414.1:c.1238-1212_*1del
ENST00000682508.1:n.1267-1212_2313del
ENST00000684218.1:c.*496-1212_*1542del
ENST00000684407.1:c.1115-1212_*1del
ENST00000684458.1:c.1238-1368_*770del
ENST00000391945.10:c.1238-1212_*1del
ENST00000646507.1:n.1335-1212_2381del
ENST00000391942.6:n.409-1212_1455del
ENST00000391944.7:c.1004-1212_*1del
ENST00000391945.8:c.1238-1212_*1del
ENST00000588652.5:n.28_2372del
NM_000400.3:c.1238-1212_*1del , LRG_461t1:c.1238-1212_*1del
XM_011526611.1:c.1160-1212_*1del
XM_011526611.2:c.1160-1212_*1del
XM_017026467.1:c.1115-1212_*1del
XR_001753633.2:n.1285-1212_2331del
NM_000400.4:c.1238-1212_*1del