Canonical Allele Identifier: CA2575929543

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947941dup , CM000678.2:g.13947941dup	GRCh38
NC_000016.9:g.14041798dup , CM000678.1:g.14041798dup	GRCh37
NC_000016.8:g.13949299dup	NCBI36
NG_011442.1:g.32785dup , LRG_463:g.32785dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2483dup	ENSP00000507912.1:p.Asn828LysfsTer2
ENST00000683962.1:c.*2039dup	ENSP00000506854.1:n.*2039dup
ENST00000311895.8:c.2345dup MANE Select	ENSP00000310520.7:p.Asn782LysfsTer2
ENST00000311895.7:c.2345dup	ENSP00000310520.7:p.Asn782LysfsTer2
ENST00000389138.7:n.1622dup
ENST00000462862.1:c.658dup	ENSP00000461322.1:n.658dup
NM_005236.2:c.2345dup , LRG_463t1:c.2345dup	NP_005227.1:p.Asn782LysfsTer2
XM_011522424.1:c.2483dup	XP_011520726.1:p.Asn828LysfsTer2
XM_011522425.1:c.1802dup	XP_011520727.1:p.Asn601LysfsTer2
XM_011522426.1:c.1556dup	XP_011520728.1:p.Asn519LysfsTer2
XM_011522427.1:c.995dup	XP_011520729.1:p.Asn332LysfsTer2
XR_932805.1:n.2504dup
XM_011522424.3:c.2483dup	XP_011520726.1:p.Asn828LysfsTer2
XM_017023043.2:c.1556dup	XP_016878532.1:p.Asn519LysfsTer2
NM_005236.3:c.2345dup MANE Select	NP_005227.1:p.Asn782LysfsTer2