Canonical Allele Identifier: CA2631833473

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944724-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944729del , CM000678.2:g.13944729del	GRCh38
NC_000016.9:g.14038586del , CM000678.1:g.14038586del	GRCh37
NC_000016.8:g.13946087del	NCBI36
NG_011442.1:g.29573del , LRG_463:g.29573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2049del	ENSP00000507912.1:p.Ala684GlnfsTer17
ENST00000683962.1:c.*1605del	ENSP00000506854.1:n.*1605del
ENST00000311895.8:c.1911del MANE Select	ENSP00000310520.7:p.Ala638GlnfsTer17
ENST00000311895.7:c.1911del	ENSP00000310520.7:p.Ala638GlnfsTer17
ENST00000389138.7:n.1188del
ENST00000462862.1:c.224del	ENSP00000461322.1:n.224del
NM_005236.2:c.1911del , LRG_463t1:c.1911del	NP_005227.1:p.Ala638GlnfsTer17
XM_011522424.1:c.2049del	XP_011520726.1:p.Ala684GlnfsTer17
XM_011522425.1:c.1368del	XP_011520727.1:p.Ala457GlnfsTer17
XM_011522426.1:c.1122del	XP_011520728.1:p.Ala375GlnfsTer17
XM_011522427.1:c.561del	XP_011520729.1:p.Ala188GlnfsTer17
XR_932805.1:n.2070del
XM_011522424.3:c.2049del	XP_011520726.1:p.Ala684GlnfsTer17
XM_017023043.2:c.1122del	XP_016878532.1:p.Ala375GlnfsTer17
NM_005236.3:c.1911del MANE Select	NP_005227.1:p.Ala638GlnfsTer17