Canonical Allele Identifier: CA2999925127

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947657dup , CM000678.2:g.13947657dup	GRCh38
NC_000016.9:g.14041514dup , CM000678.1:g.14041514dup	GRCh37
NC_000016.8:g.13949015dup	NCBI36
NG_011442.1:g.32501dup , LRG_463:g.32501dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2199dup	ENSP00000507912.1:p.Met734TyrfsTer3
ENST00000683962.1:c.*1755dup	ENSP00000506854.1:n.*1755dup
ENST00000311895.8:c.2061dup MANE Select	ENSP00000310520.7:p.Met688TyrfsTer3
ENST00000311895.7:c.2061dup	ENSP00000310520.7:p.Met688TyrfsTer3
ENST00000389138.7:n.1338dup
ENST00000462862.1:c.374dup	ENSP00000461322.1:n.374dup
NM_005236.2:c.2061dup , LRG_463t1:c.2061dup	NP_005227.1:p.Met688TyrfsTer3
XM_011522424.1:c.2199dup	XP_011520726.1:p.Met734TyrfsTer3
XM_011522425.1:c.1518dup	XP_011520727.1:p.Met507TyrfsTer3
XM_011522426.1:c.1272dup	XP_011520728.1:p.Met425TyrfsTer3
XM_011522427.1:c.711dup	XP_011520729.1:p.Met238TyrfsTer3
XR_932805.1:n.2220dup
XM_011522424.3:c.2199dup	XP_011520726.1:p.Met734TyrfsTer3
XM_017023043.2:c.1272dup	XP_016878532.1:p.Met425TyrfsTer3
NM_005236.3:c.2061dup MANE Select	NP_005227.1:p.Met688TyrfsTer3