Canonical Allele Identifier: CA1139664531

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947887del , CM000678.2:g.13947887del	GRCh38
NC_000016.9:g.14041744del , CM000678.1:g.14041744del	GRCh37
NC_000016.8:g.13949245del	NCBI36
NG_011442.1:g.32731del , LRG_463:g.32731del

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2291del MANE Select	NP_005227.1:p.Ser764ThrfsTer?
ENST00000311895.8:c.2291del MANE Select	ENSP00000310520.7:p.Ser764ThrfsTer?
NM_005236.2:c.2291del , LRG_463t1:c.2291del	NP_005227.1:p.Ser764ThrfsTer?
ENST00000311895.7:c.2291del	ENSP00000310520.7:p.Ser764ThrfsTer?
ENST00000389138.7:n.1568del
ENST00000462862.1:c.604del	ENSP00000461322.1:n.604del
ENST00000682617.1:c.2429del	ENSP00000507912.1:p.Ser810ThrfsTer?
ENST00000683962.1:c.*1985del	ENSP00000506854.1:n.*1985del
XM_011522424.1:c.2429del	XP_011520726.1:p.Ser810ThrfsTer?
XM_011522424.3:c.2429del	XP_011520726.1:p.Ser810ThrfsTer?
XM_011522425.1:c.1748del	XP_011520727.1:p.Ser583ThrfsTer?
XM_011522426.1:c.1502del	XP_011520728.1:p.Ser501ThrfsTer?
XM_011522427.1:c.941del	XP_011520729.1:p.Ser314ThrfsTer?
XM_017023043.2:c.1502del	XP_016878532.1:p.Ser501ThrfsTer?
XR_932805.1:n.2450del