Canonical Allele Identifier: CA2839603715

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292775_127292776insT , CM000664.2:g.127292775_127292776insT	GRCh38
NC_000002.11:g.128050351_128050352insT , CM000664.1:g.128050351_128050352insT	GRCh37
NC_000002.10:g.127766821_127766822insT	NCBI36
NG_007454.1:g.6401_6402insA , LRG_462:g.6401_6402insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.305_306insA MANE Select	ENSP00000285398.2:p.Ile103TyrfsTer13
ENST00000642308.1:c.305_306insA	ENSP00000496684.1:p.Ile103TyrfsTer13
ENST00000644317.1:c.235-72_235-71insA	ENSP00000494012.1:n.235-72_235-71insA
ENST00000645233.1:c.305_306insA	ENSP00000494116.1:p.Ile103TyrfsTer13
ENST00000645467.1:c.305_306insA	ENSP00000494889.1:p.Ile103TyrfsTer13
ENST00000645736.1:c.161_162insA	ENSP00000494545.1:p.Ile55TyrfsTer13
ENST00000646654.1:c.305_306insA	ENSP00000494526.1:p.Ile103TyrfsTer13
ENST00000647169.1:c.305_306insA	ENSP00000495619.1:p.Ile103TyrfsTer13
ENST00000285398.6:c.305_306insA	ENSP00000285398.2:p.Ile103TyrfsTer13
ENST00000426778.5:c.*286_*287insA	ENSP00000415335.1:n.*286_*287insA
ENST00000445889.5:c.*348_*349insA	ENSP00000390888.1:n.*348_*349insA
ENST00000462306.5:n.291-72_291-71insA
ENST00000490062.1:n.307-72_307-71insA
ENST00000494464.5:n.261-72_261-71insA
NM_000122.1:c.305_306insA , LRG_462t1:c.305_306insA	NP_000113.1:p.Ile103TyrfsTer13
NM_001303416.1:c.113_114insA	NP_001290345.1:p.Ile39TyrfsTer13
NM_001303418.1:c.113_114insA	NP_001290347.1:p.Ile39TyrfsTer13
XM_011510794.1:c.305_306insA	XP_011509096.1:p.Ile103TyrfsTer13
XM_011510795.1:c.-80-72_-80-71insA	XP_011509097.1:n.-80-72_-80-71insA
XM_011510794.2:c.305_306insA	XP_011509096.1:p.Ile103TyrfsTer13
XM_017003583.1:c.-80-72_-80-71insA	XP_016859072.1:n.-80-72_-80-71insA
NM_000122.2:c.305_306insA MANE Select	NP_000113.1:p.Ile103TyrfsTer13
NM_001303416.2:c.113_114insA	NP_001290345.1:p.Ile39TyrfsTer13
NM_001303418.2:c.113_114insA	NP_001290347.1:p.Ile39TyrfsTer13