Canonical Allele Identifier: CA2575915943

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944757_13944758del , CM000678.2:g.13944757_13944758del	GRCh38
NC_000016.9:g.14038614_14038615del , CM000678.1:g.14038614_14038615del	GRCh37
NC_000016.8:g.13946115_13946116del	NCBI36
NG_011442.1:g.29601_29602del , LRG_463:g.29601_29602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2077_2078del	ENSP00000507912.1:p.Glu693ArgfsTer4
ENST00000683962.1:c.*1633_*1634del	ENSP00000506854.1:n.*1633_*1634del
ENST00000311895.8:c.1939_1940del MANE Select	ENSP00000310520.7:p.Glu647ArgfsTer4
ENST00000311895.7:c.1939_1940del	ENSP00000310520.7:p.Glu647ArgfsTer4
ENST00000389138.7:n.1216_1217del
ENST00000462862.1:c.252_253del	ENSP00000461322.1:n.252_253del
NM_005236.2:c.1939_1940del , LRG_463t1:c.1939_1940del	NP_005227.1:p.Glu647ArgfsTer4
XM_011522424.1:c.2077_2078del	XP_011520726.1:p.Glu693ArgfsTer4
XM_011522425.1:c.1396_1397del	XP_011520727.1:p.Glu466ArgfsTer4
XM_011522426.1:c.1150_1151del	XP_011520728.1:p.Glu384ArgfsTer4
XM_011522427.1:c.589_590del	XP_011520729.1:p.Glu197ArgfsTer4
XR_932805.1:n.2098_2099del
XM_011522424.3:c.2077_2078del	XP_011520726.1:p.Glu693ArgfsTer4
XM_017023043.2:c.1150_1151del	XP_016878532.1:p.Glu384ArgfsTer4
NM_005236.3:c.1939_1940del MANE Select	NP_005227.1:p.Glu647ArgfsTer4