Canonical Allele Identifier: CA2631831388

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947969-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947970dup , CM000678.2:g.13947970dup	GRCh38
NC_000016.9:g.14041827dup , CM000678.1:g.14041827dup	GRCh37
NC_000016.8:g.13949328dup	NCBI36
NG_011442.1:g.32814dup , LRG_463:g.32814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2512dup	ENSP00000507912.1:p.Thr838AsnfsTer23
ENST00000683962.1:c.*2068dup	ENSP00000506854.1:n.*2068dup
ENST00000311895.8:c.2374dup MANE Select	ENSP00000310520.7:p.Thr792AsnfsTer23
ENST00000311895.7:c.2374dup	ENSP00000310520.7:p.Thr792AsnfsTer23
ENST00000389138.7:n.1651dup
ENST00000462862.1:c.687dup	ENSP00000461322.1:n.687dup
NM_005236.2:c.2374dup , LRG_463t1:c.2374dup	NP_005227.1:p.Thr792AsnfsTer23
XM_011522424.1:c.2512dup	XP_011520726.1:p.Thr838AsnfsTer23
XM_011522425.1:c.1831dup	XP_011520727.1:p.Thr611AsnfsTer23
XM_011522426.1:c.1585dup	XP_011520728.1:p.Thr529AsnfsTer23
XM_011522427.1:c.1024dup	XP_011520729.1:p.Thr342AsnfsTer23
XR_932805.1:n.2533dup
XM_011522424.3:c.2512dup	XP_011520726.1:p.Thr838AsnfsTer23
XM_017023043.2:c.1585dup	XP_016878532.1:p.Thr529AsnfsTer23
NM_005236.3:c.2374dup MANE Select	NP_005227.1:p.Thr792AsnfsTer23