Canonical Allele Identifier: CA2838479811

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948089dup , CM000678.2:g.13948089dup	GRCh38
NC_000016.9:g.14041946dup , CM000678.1:g.14041946dup	GRCh37
NC_000016.8:g.13949447dup	NCBI36
NG_011442.1:g.32933dup , LRG_463:g.32933dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2631dup	ENSP00000507912.1:p.Thr878TyrfsTer5
ENST00000683962.1:c.*2187dup	ENSP00000506854.1:n.*2187dup
ENST00000311895.8:c.2493dup MANE Select	ENSP00000310520.7:p.Thr832TyrfsTer5
ENST00000311895.7:c.2493dup	ENSP00000310520.7:p.Thr832TyrfsTer5
ENST00000389138.7:n.1770dup
NM_005236.2:c.2493dup , LRG_463t1:c.2493dup	NP_005227.1:p.Thr832TyrfsTer5
XM_011522424.1:c.2631dup	XP_011520726.1:p.Thr878TyrfsTer5
XM_011522425.1:c.1950dup	XP_011520727.1:p.Thr651TyrfsTer5
XM_011522426.1:c.1704dup	XP_011520728.1:p.Thr569TyrfsTer5
XM_011522427.1:c.1143dup	XP_011520729.1:p.Thr382TyrfsTer5
XR_932805.1:n.2652dup
XM_011522424.3:c.2631dup	XP_011520726.1:p.Thr878TyrfsTer5
XM_017023043.2:c.1704dup	XP_016878532.1:p.Thr569TyrfsTer5
NM_005236.3:c.2493dup MANE Select	NP_005227.1:p.Thr832TyrfsTer5