Canonical Allele Identifier: CA2731955290

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141621183

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948181del , CM000678.2:g.13948181del	GRCh38
NC_000016.9:g.14042038del , CM000678.1:g.14042038del	GRCh37
NC_000016.8:g.13949539del	NCBI36
NG_011442.1:g.33025del , LRG_463:g.33025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2723del	ENSP00000507912.1:p.Asn908ThrfsTer5
ENST00000683962.1:c.*2279del	ENSP00000506854.1:n.*2279del
ENST00000311895.8:c.2585del MANE Select	ENSP00000310520.7:p.Asn862ThrfsTer5
ENST00000311895.7:c.2585del	ENSP00000310520.7:p.Asn862ThrfsTer5
ENST00000389138.7:n.1862del
NM_005236.2:c.2585del , LRG_463t1:c.2585del	NP_005227.1:p.Asn862ThrfsTer5
XM_011522424.1:c.2723del	XP_011520726.1:p.Asn908ThrfsTer5
XM_011522425.1:c.2042del	XP_011520727.1:p.Asn681ThrfsTer5
XM_011522426.1:c.1796del	XP_011520728.1:p.Asn599ThrfsTer5
XM_011522427.1:c.1235del	XP_011520729.1:p.Asn412ThrfsTer5
XR_932805.1:n.2744del
XM_011522424.3:c.2723del	XP_011520726.1:p.Asn908ThrfsTer5
XM_017023043.2:c.1796del	XP_016878532.1:p.Asn599ThrfsTer5
NM_005236.3:c.2585del MANE Select	NP_005227.1:p.Asn862ThrfsTer5