Canonical Allele Identifier: CA2209082805

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032553166

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947971_13947972insT , CM000678.2:g.13947971_13947972insT	GRCh38
NC_000016.9:g.14041828_14041829insT , CM000678.1:g.14041828_14041829insT	GRCh37
NC_000016.8:g.13949329_13949330insT	NCBI36
NG_011442.1:g.32815_32816insT , LRG_463:g.32815_32816insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2513_2514insT	ENSP00000507912.1:p.Leu839ThrfsTer22
ENST00000683962.1:c.*2069_*2070insT	ENSP00000506854.1:n.*2069_*2070insT
ENST00000311895.8:c.2375_2376insT MANE Select	ENSP00000310520.7:p.Leu793ThrfsTer22
ENST00000311895.7:c.2375_2376insT	ENSP00000310520.7:p.Leu793ThrfsTer22
ENST00000389138.7:n.1652_1653insT
ENST00000462862.1:c.688_689insT	ENSP00000461322.1:n.688_689insT
NM_005236.2:c.2375_2376insT , LRG_463t1:c.2375_2376insT	NP_005227.1:p.Leu793ThrfsTer22
XM_011522424.1:c.2513_2514insT	XP_011520726.1:p.Leu839ThrfsTer22
XM_011522425.1:c.1832_1833insT	XP_011520727.1:p.Leu612ThrfsTer22
XM_011522426.1:c.1586_1587insT	XP_011520728.1:p.Leu530ThrfsTer22
XM_011522427.1:c.1025_1026insT	XP_011520729.1:p.Leu343ThrfsTer22
XR_932805.1:n.2534_2535insT
XM_011522424.3:c.2513_2514insT	XP_011520726.1:p.Leu839ThrfsTer22
XM_017023043.2:c.1586_1587insT	XP_016878532.1:p.Leu530ThrfsTer22
NM_005236.3:c.2375_2376insT MANE Select	NP_005227.1:p.Leu793ThrfsTer22