Canonical Allele Identifier: CA2631831349

Gene: ERCC4

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947643dup , CM000678.2:g.13947643dup	GRCh38
NC_000016.9:g.14041500dup , CM000678.1:g.14041500dup	GRCh37
NC_000016.8:g.13949001dup	NCBI36
NG_011442.1:g.32487dup , LRG_463:g.32487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2185dup	ENSP00000507912.1:p.Ser729LysfsTer8
ENST00000683962.1:c.*1741dup	ENSP00000506854.1:n.*1741dup
ENST00000311895.8:c.2047dup MANE Select	ENSP00000310520.7:p.Ser683LysfsTer8
ENST00000311895.7:c.2047dup	ENSP00000310520.7:p.Ser683LysfsTer8
ENST00000389138.7:n.1324dup
ENST00000462862.1:c.360dup	ENSP00000461322.1:n.360dup
NM_005236.2:c.2047dup , LRG_463t1:c.2047dup	NP_005227.1:p.Ser683LysfsTer8
XM_011522424.1:c.2185dup	XP_011520726.1:p.Ser729LysfsTer8
XM_011522425.1:c.1504dup	XP_011520727.1:p.Ser502LysfsTer8
XM_011522426.1:c.1258dup	XP_011520728.1:p.Ser420LysfsTer8
XM_011522427.1:c.697dup	XP_011520729.1:p.Ser233LysfsTer8
XR_932805.1:n.2206dup
XM_011522424.3:c.2185dup	XP_011520726.1:p.Ser729LysfsTer8
XM_017023043.2:c.1258dup	XP_016878532.1:p.Ser420LysfsTer8
NM_005236.3:c.2047dup MANE Select	NP_005227.1:p.Ser683LysfsTer8