Canonical Allele Identifier: CA2999925587
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948338del , CM000678.2:g.13948338del GRCh38
NC_000016.9:g.14042195del , CM000678.1:g.14042195del GRCh37
NC_000016.8:g.13949696del NCBI36
NG_011442.1:g.33182del , LRG_463:g.33182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2880del ENSP00000507912.1:p.Lys962SerfsTer4
ENST00000683962.1:c.*2436del ENSP00000506854.1:n.*2436del
ENST00000311895.8:c.2742del MANE Select ENSP00000310520.7:p.Lys916SerfsTer4
ENST00000311895.7:c.2742del ENSP00000310520.7:p.Lys916SerfsTer4
ENST00000389138.7:n.2019del
NM_005236.2:c.2742del , LRG_463t1:c.2742del NP_005227.1:p.Lys916SerfsTer4
XM_011522424.1:c.2880del XP_011520726.1:p.Lys962SerfsTer4
XM_011522425.1:c.2199del XP_011520727.1:p.Lys735SerfsTer4
XM_011522426.1:c.1953del XP_011520728.1:p.Lys653SerfsTer4
XM_011522427.1:c.1392del XP_011520729.1:p.Lys466SerfsTer4
XR_932805.1:n.2901del
XM_011522424.3:c.2880del XP_011520726.1:p.Lys962SerfsTer4
XM_017023043.2:c.1953del XP_016878532.1:p.Lys653SerfsTer4
NM_005236.3:c.2742del MANE Select NP_005227.1:p.Lys916SerfsTer4