Canonical Allele Identifier: CA2575929544
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948159dup , CM000678.2:g.13948159dup GRCh38
NC_000016.9:g.14042016dup , CM000678.1:g.14042016dup GRCh37
NC_000016.8:g.13949517dup NCBI36
NG_011442.1:g.33003dup , LRG_463:g.33003dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2701dup ENSP00000507912.1:p.Met901AsnfsTer17
ENST00000683962.1:c.*2257dup ENSP00000506854.1:n.*2257dup
ENST00000311895.8:c.2563dup MANE Select ENSP00000310520.7:p.Met855AsnfsTer17
ENST00000311895.7:c.2563dup ENSP00000310520.7:p.Met855AsnfsTer17
ENST00000389138.7:n.1840dup
NM_005236.2:c.2563dup , LRG_463t1:c.2563dup NP_005227.1:p.Met855AsnfsTer17
XM_011522424.1:c.2701dup XP_011520726.1:p.Met901AsnfsTer17
XM_011522425.1:c.2020dup XP_011520727.1:p.Met674AsnfsTer17
XM_011522426.1:c.1774dup XP_011520728.1:p.Met592AsnfsTer17
XM_011522427.1:c.1213dup XP_011520729.1:p.Met405AsnfsTer17
XR_932805.1:n.2722dup
XM_011522424.3:c.2701dup XP_011520726.1:p.Met901AsnfsTer17
XM_017023043.2:c.1774dup XP_016878532.1:p.Met592AsnfsTer17
NM_005236.3:c.2563dup MANE Select NP_005227.1:p.Met855AsnfsTer17