Canonical Allele Identifier: CA2842603172

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292751dup , CM000664.2:g.127292751dup	GRCh38
NC_000002.11:g.128050327dup , CM000664.1:g.128050327dup	GRCh37
NC_000002.10:g.127766797dup	NCBI36
NG_007454.1:g.6427dup , LRG_462:g.6427dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.331dup MANE Select	ENSP00000285398.2:p.Thr111AsnfsTer5
ENST00000642308.1:c.331dup	ENSP00000496684.1:p.Thr111AsnfsTer5
ENST00000644317.1:c.235-46dup	ENSP00000494012.1:n.235-46dup
ENST00000645233.1:c.331dup	ENSP00000494116.1:p.Thr111AsnfsTer5
ENST00000645467.1:c.331dup	ENSP00000494889.1:p.Thr111AsnfsTer5
ENST00000645736.1:c.187dup	ENSP00000494545.1:p.Thr63AsnfsTer5
ENST00000646654.1:c.331dup	ENSP00000494526.1:p.Thr111AsnfsTer5
ENST00000647169.1:c.331dup	ENSP00000495619.1:p.Thr111AsnfsTer5
ENST00000285398.6:c.331dup	ENSP00000285398.2:p.Thr111AsnfsTer5
ENST00000426778.5:c.*312dup	ENSP00000415335.1:n.*312dup
ENST00000445889.5:c.*374dup	ENSP00000390888.1:n.*374dup
ENST00000462306.5:n.291-46dup
ENST00000490062.1:n.307-46dup
ENST00000494464.5:n.261-46dup
NM_000122.1:c.331dup , LRG_462t1:c.331dup	NP_000113.1:p.Thr111AsnfsTer5
NM_001303416.1:c.139dup	NP_001290345.1:p.Thr47AsnfsTer5
NM_001303418.1:c.139dup	NP_001290347.1:p.Thr47AsnfsTer5
XM_011510794.1:c.331dup	XP_011509096.1:p.Thr111AsnfsTer5
XM_011510795.1:c.-80-46dup	XP_011509097.1:n.-80-46dup
XM_011510794.2:c.331dup	XP_011509096.1:p.Thr111AsnfsTer5
XM_017003583.1:c.-80-46dup	XP_016859072.1:n.-80-46dup
NM_000122.2:c.331dup MANE Select	NP_000113.1:p.Thr111AsnfsTer5
NM_001303416.2:c.139dup	NP_001290345.1:p.Thr47AsnfsTer5
NM_001303418.2:c.139dup	NP_001290347.1:p.Thr47AsnfsTer5