Canonical Allele Identifier: CA2999925325

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947884dup , CM000678.2:g.13947884dup	GRCh38
NC_000016.9:g.14041741dup , CM000678.1:g.14041741dup	GRCh37
NC_000016.8:g.13949242dup	NCBI36
NG_011442.1:g.32728dup , LRG_463:g.32728dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2288dup MANE Select	NP_005227.1:p.Ser764Ter
ENST00000311895.8:c.2288dup MANE Select	ENSP00000310520.7:p.Ser764Ter
NM_005236.2:c.2288dup , LRG_463t1:c.2288dup	NP_005227.1:p.Ser764Ter
ENST00000311895.7:c.2288dup	ENSP00000310520.7:p.Ser764Ter
ENST00000389138.7:n.1565dup
ENST00000462862.1:c.601dup	ENSP00000461322.1:n.601dup
ENST00000682617.1:c.2426dup	ENSP00000507912.1:p.Ser810Ter
ENST00000683962.1:c.*1982dup	ENSP00000506854.1:n.*1982dup
XM_011522424.1:c.2426dup	XP_011520726.1:p.Ser810Ter
XM_011522424.3:c.2426dup	XP_011520726.1:p.Ser810Ter
XM_011522425.1:c.1745dup	XP_011520727.1:p.Ser583Ter
XM_011522426.1:c.1499dup	XP_011520728.1:p.Ser501Ter
XM_011522427.1:c.938dup	XP_011520729.1:p.Ser314Ter
XM_017023043.2:c.1499dup	XP_016878532.1:p.Ser501Ter
XR_932805.1:n.2447dup