Canonical Allele Identifier: CA2631831415

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948321-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948322dup , CM000678.2:g.13948322dup	GRCh38
NC_000016.9:g.14042179dup , CM000678.1:g.14042179dup	GRCh37
NC_000016.8:g.13949680dup	NCBI36
NG_011442.1:g.33166dup , LRG_463:g.33166dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2864dup	ENSP00000507912.1:p.Ser956IlefsTer30
ENST00000683962.1:c.*2420dup	ENSP00000506854.1:n.*2420dup
ENST00000311895.8:c.2726dup MANE Select	ENSP00000310520.7:p.Ser910IlefsTer30
ENST00000311895.7:c.2726dup	ENSP00000310520.7:p.Ser910IlefsTer30
ENST00000389138.7:n.2003dup
NM_005236.2:c.2726dup , LRG_463t1:c.2726dup	NP_005227.1:p.Ser910IlefsTer30
XM_011522424.1:c.2864dup	XP_011520726.1:p.Ser956IlefsTer30
XM_011522425.1:c.2183dup	XP_011520727.1:p.Ser729IlefsTer30
XM_011522426.1:c.1937dup	XP_011520728.1:p.Ser647IlefsTer30
XM_011522427.1:c.1376dup	XP_011520729.1:p.Ser460IlefsTer30
XR_932805.1:n.2885dup
XM_011522424.3:c.2864dup	XP_011520726.1:p.Ser956IlefsTer30
XM_017023043.2:c.1937dup	XP_016878532.1:p.Ser647IlefsTer30
NM_005236.3:c.2726dup MANE Select	NP_005227.1:p.Ser910IlefsTer30