Canonical Allele Identifier: CA2631831045

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944798-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944799del , CM000678.2:g.13944799del	GRCh38
NC_000016.9:g.14038656del , CM000678.1:g.14038656del	GRCh37
NC_000016.8:g.13946157del	NCBI36
NG_011442.1:g.29643del , LRG_463:g.29643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2119del	ENSP00000507912.1:p.Ala707HisfsTer24
ENST00000683962.1:c.*1675del	ENSP00000506854.1:n.*1675del
ENST00000311895.8:c.1981del MANE Select	ENSP00000310520.7:p.Ala661HisfsTer24
ENST00000311895.7:c.1981del	ENSP00000310520.7:p.Ala661HisfsTer24
ENST00000389138.7:n.1258del
ENST00000462862.1:c.294del	ENSP00000461322.1:n.294del
NM_005236.2:c.1981del , LRG_463t1:c.1981del	NP_005227.1:p.Ala661HisfsTer24
XM_011522424.1:c.2119del	XP_011520726.1:p.Ala707HisfsTer24
XM_011522425.1:c.1438del	XP_011520727.1:p.Ala480HisfsTer24
XM_011522426.1:c.1192del	XP_011520728.1:p.Ala398HisfsTer24
XM_011522427.1:c.631del	XP_011520729.1:p.Ala211HisfsTer24
XR_932805.1:n.2140del
XM_011522424.3:c.2119del	XP_011520726.1:p.Ala707HisfsTer24
XM_017023043.2:c.1192del	XP_016878532.1:p.Ala398HisfsTer24
NM_005236.3:c.1981del MANE Select	NP_005227.1:p.Ala661HisfsTer24