Canonical Allele Identifier: CA1286822707
Gene: ERCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127292664_127292665delinsGT , CM000664.2:g.127292664_127292665delinsGT GRCh38
NC_000002.11:g.128050240_128050241delinsGT , CM000664.1:g.128050240_128050241delinsGT GRCh37
NC_000002.10:g.127766710_127766711delinsGT NCBI36
NG_007454.1:g.6512_6513delinsAC , LRG_462:g.6512_6513delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000285398.7:c.416_417delinsAC MANE Select ENSP00000285398.2:p.Tyr139=
ENST00000642308.1:c.416_417delinsAC ENSP00000496684.1:p.Tyr139=
ENST00000644317.1:c.274_275delinsAC ENSP00000494012.1:p.Thr92=
ENST00000645233.1:c.416_417delinsAC ENSP00000494116.1:p.Tyr139=
ENST00000645467.1:c.416_417delinsAC ENSP00000494889.1:p.Tyr139=
ENST00000645736.1:c.272_273delinsAC ENSP00000494545.1:p.Tyr91=
ENST00000646654.1:c.416_417delinsAC ENSP00000494526.1:p.Tyr139=
ENST00000647169.1:c.416_417delinsAC ENSP00000495619.1:p.Tyr139=
ENST00000285398.6:c.416_417delinsAC ENSP00000285398.2:p.Tyr139=
ENST00000426778.5:c.*397_*398delinsAC ENSP00000415335.1:n.*397_*398delinsAC
ENST00000445889.5:c.*459_*460delinsAC ENSP00000390888.1:n.*459_*460delinsAC
ENST00000462306.5:n.330_331delinsAC
ENST00000490062.1:n.346_347delinsAC
ENST00000494464.5:n.300_301delinsAC
NM_000122.1:c.416_417delinsAC , LRG_462t1:c.416_417delinsAC NP_000113.1:p.Tyr139=
NM_001303416.1:c.224_225delinsAC NP_001290345.1:p.Tyr75=
NM_001303418.1:c.224_225delinsAC NP_001290347.1:p.Tyr75=
XM_011510794.1:c.416_417delinsAC XP_011509096.1:p.Tyr139=
XM_011510795.1:c.-41_-40delinsAC XP_011509097.1:n.-41_-40delinsAC
XM_011510794.2:c.416_417delinsAC XP_011509096.1:p.Tyr139=
XM_017003583.1:c.-41_-40delinsAC XP_016859072.1:n.-41_-40delinsAC
NM_000122.2:c.416_417delinsAC MANE Select NP_000113.1:p.Tyr139=
NM_001303416.2:c.224_225delinsAC NP_001290345.1:p.Tyr75=
NM_001303418.2:c.224_225delinsAC NP_001290347.1:p.Tyr75=