Canonical Allele Identifier: CA2209073270
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935567_13935585delinsAATCCTGAAAGAACCCCTC , CM000678.2:g.13935567_13935585delinsAATCCTGAAAGAACCCCTC GRCh38
NC_000016.9:g.14029424_14029442delinsAATCCTGAAAGAACCCCTC , CM000678.1:g.14029424_14029442delinsAATCCTGAAAGAACCCCTC GRCh37
NC_000016.8:g.13936925_13936943delinsAATCCTGAAAGAACCCCTC NCBI36
NG_011442.1:g.20411_20429delinsAATCCTGAAAGAACCCCTC , LRG_463:g.20411_20429delinsAATCCTGAAAGAACCCCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1713_1731delinsAATCCTGAAAGAACCCCTC
ENST00000682617.1:c.1773_1791delinsAATCCTGAAAGAACCCCTC ENSP00000507912.1:p.Gly591=
ENST00000682826.1:c.*949_*967delinsAATCCTGAAAGAACCCCTC ENSP00000507274.1:n.*949_*967delinsAATCCTGAAAGAACCCCTC
ENST00000682909.1:n.3675_3693delinsAATCCTGAAAGAACCCCTC
ENST00000683277.1:n.3280_3298delinsAATCCTGAAAGAACCCCTC
ENST00000683407.1:n.1643_1661delinsAATCCTGAAAGAACCCCTC
ENST00000683962.1:c.*1329_*1347delinsAATCCTGAAAGAACCCCTC ENSP00000506854.1:n.*1329_*1347delinsAATCCTGAAAGAACCCCTC
ENST00000311895.8:c.1635_1653delinsAATCCTGAAAGAACCCCTC MANE Select ENSP00000310520.7:p.Gly545=
ENST00000311895.7:c.1635_1653delinsAATCCTGAAAGAACCCCTC ENSP00000310520.7:p.Gly545=
ENST00000389138.7:n.912_930delinsAATCCTGAAAGAACCCCTC
NM_005236.2:c.1635_1653delinsAATCCTGAAAGAACCCCTC , LRG_463t1:c.1635_1653delinsAATCCTGAAAGAACCCCTC NP_005227.1:p.Gly545=
XM_011522424.1:c.1773_1791delinsAATCCTGAAAGAACCCCTC XP_011520726.1:p.Gly591=
XM_011522425.1:c.1092_1110delinsAATCCTGAAAGAACCCCTC XP_011520727.1:p.Gly364=
XM_011522426.1:c.846_864delinsAATCCTGAAAGAACCCCTC XP_011520728.1:p.Gly282=
XM_011522427.1:c.285_303delinsAATCCTGAAAGAACCCCTC XP_011520729.1:p.Gly95=
XR_932805.1:n.1794_1812delinsAATCCTGAAAGAACCCCTC
XM_011522424.3:c.1773_1791delinsAATCCTGAAAGAACCCCTC XP_011520726.1:p.Gly591=
XM_017023043.2:c.846_864delinsAATCCTGAAAGAACCCCTC XP_016878532.1:p.Gly282=
NM_005236.3:c.1635_1653delinsAATCCTGAAAGAACCCCTC MANE Select NP_005227.1:p.Gly545=