Canonical Allele Identifier: CA2731955164

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141621067

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948136del , CM000678.2:g.13948136del	GRCh38
NC_000016.9:g.14041993del , CM000678.1:g.14041993del	GRCh37
NC_000016.8:g.13949494del	NCBI36
NG_011442.1:g.32980del , LRG_463:g.32980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2678del	ENSP00000507912.1:p.Gly893ValfsTer7
ENST00000683962.1:c.*2234del	ENSP00000506854.1:n.*2234del
ENST00000311895.8:c.2540del MANE Select	ENSP00000310520.7:p.Gly847ValfsTer7
ENST00000311895.7:c.2540del	ENSP00000310520.7:p.Gly847ValfsTer7
ENST00000389138.7:n.1817del
NM_005236.2:c.2540del , LRG_463t1:c.2540del	NP_005227.1:p.Gly847ValfsTer7
XM_011522424.1:c.2678del	XP_011520726.1:p.Gly893ValfsTer7
XM_011522425.1:c.1997del	XP_011520727.1:p.Gly666ValfsTer7
XM_011522426.1:c.1751del	XP_011520728.1:p.Gly584ValfsTer7
XM_011522427.1:c.1190del	XP_011520729.1:p.Gly397ValfsTer7
XR_932805.1:n.2699del
XM_011522424.3:c.2678del	XP_011520726.1:p.Gly893ValfsTer7
XM_017023043.2:c.1751del	XP_016878532.1:p.Gly584ValfsTer7
NM_005236.3:c.2540del MANE Select	NP_005227.1:p.Gly847ValfsTer7