Canonical Allele Identifier: CA2209082765
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947895_13947899delinsTTCTC , CM000678.2:g.13947895_13947899delinsTTCTC GRCh38
NC_000016.9:g.14041752_14041756delinsTTCTC , CM000678.1:g.14041752_14041756delinsTTCTC GRCh37
NC_000016.8:g.13949253_13949257delinsTTCTC NCBI36
NG_011442.1:g.32739_32743delinsTTCTC , LRG_463:g.32739_32743delinsTTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2437_2441delinsTTCTC ENSP00000507912.1:p.Phe813=
ENST00000683962.1:c.*1993_*1997delinsTTCTC ENSP00000506854.1:n.*1993_*1997delinsTTCTC
ENST00000311895.8:c.2299_2303delinsTTCTC MANE Select ENSP00000310520.7:p.Phe767=
ENST00000311895.7:c.2299_2303delinsTTCTC ENSP00000310520.7:p.Phe767=
ENST00000389138.7:n.1576_1580delinsTTCTC
ENST00000462862.1:c.612_616delinsTTCTC ENSP00000461322.1:n.612_616delinsTTCTC
NM_005236.2:c.2299_2303delinsTTCTC , LRG_463t1:c.2299_2303delinsTTCTC NP_005227.1:p.Phe767=
XM_011522424.1:c.2437_2441delinsTTCTC XP_011520726.1:p.Phe813=
XM_011522425.1:c.1756_1760delinsTTCTC XP_011520727.1:p.Phe586=
XM_011522426.1:c.1510_1514delinsTTCTC XP_011520728.1:p.Phe504=
XM_011522427.1:c.949_953delinsTTCTC XP_011520729.1:p.Phe317=
XR_932805.1:n.2458_2462delinsTTCTC
XM_011522424.3:c.2437_2441delinsTTCTC XP_011520726.1:p.Phe813=
XM_017023043.2:c.1510_1514delinsTTCTC XP_016878532.1:p.Phe504=
NM_005236.3:c.2299_2303delinsTTCTC MANE Select NP_005227.1:p.Phe767=