Canonical Allele Identifier: CA3265657887
Community Standard Title: NM_005236.3(ERCC4):c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC (p.Glu707ValfsTer26)
Gene: ERCC4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947713_13947714insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC , CM000678.2:g.13947713_13947714insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC GRCh38
NC_000016.9:g.14041570_14041571insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC , CM000678.1:g.14041570_14041571insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC GRCh37
NC_000016.8:g.13949071_13949072insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC NCBI36
NG_011442.1:g.32557_32558insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC , LRG_463:g.32557_32558insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC MANE Select NP_005227.1:p.Glu707ValfsTer26
ENST00000311895.8:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC MANE Select ENSP00000310520.7:p.Glu707ValfsTer26
NM_005236.2:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC , LRG_463t1:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC NP_005227.1:p.Glu707ValfsTer26
ENST00000311895.7:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC ENSP00000310520.7:p.Glu707ValfsTer26
ENST00000389138.7:n.1394_1395insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC
ENST00000462862.1:c.430_431insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC ENSP00000461322.1:n.430_431insAGTTTCTTACATGATTTTTTTTCATTTTAAT...
ENST00000682617.1:c.2255_2256insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC ENSP00000507912.1:p.Glu753ValfsTer26
ENST00000683962.1:c.*1811_*1812insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC ENSP00000506854.1:n.*1811_*1812insAGTTTCTTACATGATTTTTTTTCATTT...
XM_011522424.1:c.2255_2256insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC XP_011520726.1:p.Glu753ValfsTer26
XM_011522424.3:c.2255_2256insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC XP_011520726.1:p.Glu753ValfsTer26
XM_011522425.1:c.1574_1575insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC XP_011520727.1:p.Glu526ValfsTer26
XM_011522426.1:c.1328_1329insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC XP_011520728.1:p.Glu444ValfsTer26
XM_011522427.1:c.767_768insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC XP_011520729.1:p.Glu257ValfsTer26
XM_017023043.2:c.1328_1329insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC XP_016878532.1:p.Glu444ValfsTer26
XR_932805.1:n.2276_2277insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC
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