Canonical Allele Identifier: CA621178893

Gene: ERCC4

Linked Data

• dbSNP Id: rs1164162337
• gnomAD v2: 16-14041572-GA-G
• gnomAD v4: 16-13947715-GA-G
• MyVariant Identifiers: chr16:g.14041573del (hg19) ; chr16:g.13947716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947717del , CM000678.2:g.13947717del	GRCh38
NC_000016.9:g.14041574del , CM000678.1:g.14041574del	GRCh37
NC_000016.8:g.13949075del	NCBI36
NG_011442.1:g.32561del , LRG_463:g.32561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2259del	ENSP00000507912.1:p.Glu753AspfsTer3
ENST00000683962.1:c.*1815del	ENSP00000506854.1:n.*1815del
ENST00000311895.8:c.2121del MANE Select	ENSP00000310520.7:p.Glu707AspfsTer3
ENST00000311895.7:c.2121del	ENSP00000310520.7:p.Glu707AspfsTer3
ENST00000389138.7:n.1398del
ENST00000462862.1:c.434del	ENSP00000461322.1:n.434del
NM_005236.2:c.2121del , LRG_463t1:c.2121del	NP_005227.1:p.Glu707AspfsTer3
XM_011522424.1:c.2259del	XP_011520726.1:p.Glu753AspfsTer3
XM_011522425.1:c.1578del	XP_011520727.1:p.Glu526AspfsTer3
XM_011522426.1:c.1332del	XP_011520728.1:p.Glu444AspfsTer3
XM_011522427.1:c.771del	XP_011520729.1:p.Glu257AspfsTer3
XR_932805.1:n.2280del
XM_011522424.3:c.2259del	XP_011520726.1:p.Glu753AspfsTer3
XM_017023043.2:c.1332del	XP_016878532.1:p.Glu444AspfsTer3
NM_005236.3:c.2121del MANE Select	NP_005227.1:p.Glu707AspfsTer3