Canonical Allele Identifier: CA2631831348

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947638-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947639del , CM000678.2:g.13947639del	GRCh38
NC_000016.9:g.14041496del , CM000678.1:g.14041496del	GRCh37
NC_000016.8:g.13948997del	NCBI36
NG_011442.1:g.32483del , LRG_463:g.32483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2181del	ENSP00000507912.1:p.Gln727HisfsTer4
ENST00000683962.1:c.*1737del	ENSP00000506854.1:n.*1737del
ENST00000311895.8:c.2043del MANE Select	ENSP00000310520.7:p.Gln681HisfsTer4
ENST00000311895.7:c.2043del	ENSP00000310520.7:p.Gln681HisfsTer4
ENST00000389138.7:n.1320del
ENST00000462862.1:c.356del	ENSP00000461322.1:n.356del
NM_005236.2:c.2043del , LRG_463t1:c.2043del	NP_005227.1:p.Gln681HisfsTer4
XM_011522424.1:c.2181del	XP_011520726.1:p.Gln727HisfsTer4
XM_011522425.1:c.1500del	XP_011520727.1:p.Gln500HisfsTer4
XM_011522426.1:c.1254del	XP_011520728.1:p.Gln418HisfsTer4
XM_011522427.1:c.693del	XP_011520729.1:p.Gln231HisfsTer4
XR_932805.1:n.2202del
XM_011522424.3:c.2181del	XP_011520726.1:p.Gln727HisfsTer4
XM_017023043.2:c.1254del	XP_016878532.1:p.Gln418HisfsTer4
NM_005236.3:c.2043del MANE Select	NP_005227.1:p.Gln681HisfsTer4