Canonical Allele Identifier: CA621178895

Gene: ERCC4

Linked Data

• dbSNP Id: rs1567253759
• gnomAD v2: 16-14041679-C-CA
• MyVariant Identifiers: chr16:g.14041679_14041680insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947823dup , CM000678.2:g.13947823dup	GRCh38
NC_000016.9:g.14041680dup , CM000678.1:g.14041680dup	GRCh37
NC_000016.8:g.13949181dup	NCBI36
NG_011442.1:g.32667dup , LRG_463:g.32667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2365dup	ENSP00000507912.1:p.Ser789LysfsTer18
ENST00000683962.1:c.*1921dup	ENSP00000506854.1:n.*1921dup
ENST00000311895.8:c.2227dup MANE Select	ENSP00000310520.7:p.Ser743LysfsTer18
ENST00000311895.7:c.2227dup	ENSP00000310520.7:p.Ser743LysfsTer18
ENST00000389138.7:n.1504dup
ENST00000462862.1:c.540dup	ENSP00000461322.1:n.540dup
NM_005236.2:c.2227dup , LRG_463t1:c.2227dup	NP_005227.1:p.Ser743LysfsTer18
XM_011522424.1:c.2365dup	XP_011520726.1:p.Ser789LysfsTer18
XM_011522425.1:c.1684dup	XP_011520727.1:p.Ser562LysfsTer18
XM_011522426.1:c.1438dup	XP_011520728.1:p.Ser480LysfsTer18
XM_011522427.1:c.877dup	XP_011520729.1:p.Ser293LysfsTer18
XR_932805.1:n.2386dup
XM_011522424.3:c.2365dup	XP_011520726.1:p.Ser789LysfsTer18
XM_017023043.2:c.1438dup	XP_016878532.1:p.Ser480LysfsTer18
NM_005236.3:c.2227dup MANE Select	NP_005227.1:p.Ser743LysfsTer18