Canonical Allele Identifier: CA2631831396

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948032-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948035dup , CM000678.2:g.13948035dup	GRCh38
NC_000016.9:g.14041892dup , CM000678.1:g.14041892dup	GRCh37
NC_000016.8:g.13949393dup	NCBI36
NG_011442.1:g.32879dup , LRG_463:g.32879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2577dup	ENSP00000507912.1:p.Glu860Ter
ENST00000683962.1:c.*2133dup	ENSP00000506854.1:n.*2133dup
ENST00000311895.8:c.2439dup MANE Select	ENSP00000310520.7:p.Glu814Ter
ENST00000311895.7:c.2439dup	ENSP00000310520.7:p.Glu814Ter
ENST00000389138.7:n.1716dup
NM_005236.2:c.2439dup , LRG_463t1:c.2439dup	NP_005227.1:p.Glu814Ter
XM_011522424.1:c.2577dup	XP_011520726.1:p.Glu860Ter
XM_011522425.1:c.1896dup	XP_011520727.1:p.Glu633Ter
XM_011522426.1:c.1650dup	XP_011520728.1:p.Glu551Ter
XM_011522427.1:c.1089dup	XP_011520729.1:p.Glu364Ter
XR_932805.1:n.2598dup
XM_011522424.3:c.2577dup	XP_011520726.1:p.Glu860Ter
XM_017023043.2:c.1650dup	XP_016878532.1:p.Glu551Ter
NM_005236.3:c.2439dup MANE Select	NP_005227.1:p.Glu814Ter