Canonical Allele Identifier: CA2999925288

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947854dup , CM000678.2:g.13947854dup	GRCh38
NC_000016.9:g.14041711dup , CM000678.1:g.14041711dup	GRCh37
NC_000016.8:g.13949212dup	NCBI36
NG_011442.1:g.32698dup , LRG_463:g.32698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2396dup	ENSP00000507912.1:p.Arg800AlafsTer7
ENST00000683962.1:c.*1952dup	ENSP00000506854.1:n.*1952dup
ENST00000311895.8:c.2258dup MANE Select	ENSP00000310520.7:p.Arg754AlafsTer7
ENST00000311895.7:c.2258dup	ENSP00000310520.7:p.Arg754AlafsTer7
ENST00000389138.7:n.1535dup
ENST00000462862.1:c.571dup	ENSP00000461322.1:n.571dup
NM_005236.2:c.2258dup , LRG_463t1:c.2258dup	NP_005227.1:p.Arg754AlafsTer7
XM_011522424.1:c.2396dup	XP_011520726.1:p.Arg800AlafsTer7
XM_011522425.1:c.1715dup	XP_011520727.1:p.Arg573AlafsTer7
XM_011522426.1:c.1469dup	XP_011520728.1:p.Arg491AlafsTer7
XM_011522427.1:c.908dup	XP_011520729.1:p.Arg304AlafsTer7
XR_932805.1:n.2417dup
XM_011522424.3:c.2396dup	XP_011520726.1:p.Arg800AlafsTer7
XM_017023043.2:c.1469dup	XP_016878532.1:p.Arg491AlafsTer7
NM_005236.3:c.2258dup MANE Select	NP_005227.1:p.Arg754AlafsTer7