Canonical Allele Identifier: CA2731955206

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607282

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935372del , CM000678.2:g.13935372del	GRCh38
NC_000016.9:g.14029229del , CM000678.1:g.14029229del	GRCh37
NC_000016.8:g.13936730del	NCBI36
NG_011442.1:g.20216del , LRG_463:g.20216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1518del
ENST00000682617.1:c.1578del	ENSP00000507912.1:p.Glu528LysfsTer11
ENST00000682826.1:c.*754del	ENSP00000507274.1:n.*754del
ENST00000682909.1:n.3480del
ENST00000683277.1:n.3085del
ENST00000683407.1:n.1448del
ENST00000683962.1:c.*1134del	ENSP00000506854.1:n.*1134del
ENST00000311895.8:c.1440del MANE Select	ENSP00000310520.7:p.Glu482LysfsTer11
ENST00000311895.7:c.1440del	ENSP00000310520.7:p.Glu482LysfsTer11
ENST00000389138.7:n.717del
ENST00000573018.1:n.508del
NM_005236.2:c.1440del , LRG_463t1:c.1440del	NP_005227.1:p.Glu482LysfsTer11
XM_011522424.1:c.1578del	XP_011520726.1:p.Glu528LysfsTer11
XM_011522425.1:c.897del	XP_011520727.1:p.Glu301LysfsTer11
XM_011522426.1:c.651del	XP_011520728.1:p.Glu219LysfsTer11
XM_011522427.1:c.90del	XP_011520729.1:p.Glu32LysfsTer11
XR_932805.1:n.1599del
XM_011522424.3:c.1578del	XP_011520726.1:p.Glu528LysfsTer11
XM_017023043.2:c.651del	XP_016878532.1:p.Glu219LysfsTer11
NM_005236.3:c.1440del MANE Select	NP_005227.1:p.Glu482LysfsTer11