Canonical Allele Identifier: CA2631831914

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935693-T-TGTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935695_13935698dup , CM000678.2:g.13935695_13935698dup	GRCh38
NC_000016.9:g.14029552_14029555dup , CM000678.1:g.14029552_14029555dup	GRCh37
NC_000016.8:g.13937053_13937056dup	NCBI36
NG_011442.1:g.20539_20542dup , LRG_463:g.20539_20542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1841_1844dup
ENST00000682617.1:c.1901_1904dup	ENSP00000507912.1:p.Gln636SerfsTer4
ENST00000682826.1:c.*1077_*1080dup	ENSP00000507274.1:n.*1077_*1080dup
ENST00000682909.1:n.3803_3806dup
ENST00000683277.1:n.3408_3411dup
ENST00000683407.1:n.1771_1774dup
ENST00000683962.1:c.*1457_*1460dup	ENSP00000506854.1:n.*1457_*1460dup
ENST00000311895.8:c.1763_1766dup MANE Select	ENSP00000310520.7:p.Gln590SerfsTer4
ENST00000311895.7:c.1763_1766dup	ENSP00000310520.7:p.Gln590SerfsTer4
ENST00000389138.7:n.1040_1043dup
NM_005236.2:c.1763_1766dup , LRG_463t1:c.1763_1766dup	NP_005227.1:p.Gln590SerfsTer4
XM_011522424.1:c.1901_1904dup	XP_011520726.1:p.Gln636SerfsTer4
XM_011522425.1:c.1220_1223dup	XP_011520727.1:p.Gln409SerfsTer4
XM_011522426.1:c.974_977dup	XP_011520728.1:p.Gln327SerfsTer4
XM_011522427.1:c.413_416dup	XP_011520729.1:p.Gln140SerfsTer4
XR_932805.1:n.1922_1925dup
XM_011522424.3:c.1901_1904dup	XP_011520726.1:p.Gln636SerfsTer4
XM_017023043.2:c.974_977dup	XP_016878532.1:p.Gln327SerfsTer4
NM_005236.3:c.1763_1766dup MANE Select	NP_005227.1:p.Gln590SerfsTer4