Canonical Allele Identifier: CA2580090789

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2417822
• ClinVar RCV Id: RCV003117931

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944741_13944742delinsGT , CM000678.2:g.13944741_13944742delinsGT	GRCh38
NC_000016.9:g.14038598_14038599delinsGT , CM000678.1:g.14038598_14038599delinsGT	GRCh37
NC_000016.8:g.13946099_13946100delinsGT	NCBI36
NG_011442.1:g.29585_29586delinsGT , LRG_463:g.29585_29586delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2061_2062delinsGT	ENSP00000507912.1:p.Val688Phe
ENST00000683962.1:c.*1617_*1618delinsGT	ENSP00000506854.1:n.*1617_*1618delinsGT
ENST00000311895.8:c.1923_1924delinsGT MANE Select	ENSP00000310520.7:p.Val642Phe
ENST00000311895.7:c.1923_1924delinsGT	ENSP00000310520.7:p.Val642Phe
ENST00000389138.7:n.1200_1201delinsGT
ENST00000462862.1:c.236_237delinsGT	ENSP00000461322.1:n.236_237delinsGT
NM_005236.2:c.1923_1924delinsGT , LRG_463t1:c.1923_1924delinsGT	NP_005227.1:p.Val642Phe
XM_011522424.1:c.2061_2062delinsGT	XP_011520726.1:p.Val688Phe
XM_011522425.1:c.1380_1381delinsGT	XP_011520727.1:p.Val461Phe
XM_011522426.1:c.1134_1135delinsGT	XP_011520728.1:p.Val379Phe
XM_011522427.1:c.573_574delinsGT	XP_011520729.1:p.Val192Phe
XR_932805.1:n.2082_2083delinsGT
XM_011522424.3:c.2061_2062delinsGT	XP_011520726.1:p.Val688Phe
XM_017023043.2:c.1134_1135delinsGT	XP_016878532.1:p.Val379Phe
NM_005236.3:c.1923_1924delinsGT MANE Select	NP_005227.1:p.Val642Phe