Canonical Allele Identifier: CA2631831903

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935688-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935690dup , CM000678.2:g.13935690dup	GRCh38
NC_000016.9:g.14029547dup , CM000678.1:g.14029547dup	GRCh37
NC_000016.8:g.13937048dup	NCBI36
NG_011442.1:g.20534dup , LRG_463:g.20534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1836dup
ENST00000682617.1:c.1896dup	ENSP00000507912.1:p.Phe633LeufsTer6
ENST00000682826.1:c.*1072dup	ENSP00000507274.1:n.*1072dup
ENST00000682909.1:n.3798dup
ENST00000683277.1:n.3403dup
ENST00000683407.1:n.1766dup
ENST00000683962.1:c.*1452dup	ENSP00000506854.1:n.*1452dup
ENST00000311895.8:c.1758dup MANE Select	ENSP00000310520.7:p.Phe587LeufsTer6
ENST00000311895.7:c.1758dup	ENSP00000310520.7:p.Phe587LeufsTer6
ENST00000389138.7:n.1035dup
NM_005236.2:c.1758dup , LRG_463t1:c.1758dup	NP_005227.1:p.Phe587LeufsTer6
XM_011522424.1:c.1896dup	XP_011520726.1:p.Phe633LeufsTer6
XM_011522425.1:c.1215dup	XP_011520727.1:p.Phe406LeufsTer6
XM_011522426.1:c.969dup	XP_011520728.1:p.Phe324LeufsTer6
XM_011522427.1:c.408dup	XP_011520729.1:p.Phe137LeufsTer6
XR_932805.1:n.1917dup
XM_011522424.3:c.1896dup	XP_011520726.1:p.Phe633LeufsTer6
XM_017023043.2:c.969dup	XP_016878532.1:p.Phe324LeufsTer6
NM_005236.3:c.1758dup MANE Select	NP_005227.1:p.Phe587LeufsTer6