Canonical Allele Identifier: CA2209081451

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032485845
• gnomAD v4: 16-13944828-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944831del , CM000678.2:g.13944831del	GRCh38
NC_000016.9:g.14038688del , CM000678.1:g.14038688del	GRCh37
NC_000016.8:g.13946189del	NCBI36
NG_011442.1:g.29675del , LRG_463:g.29675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2151del	ENSP00000507912.1:p.Ala718ProfsTer13
ENST00000683962.1:c.*1707del	ENSP00000506854.1:n.*1707del
ENST00000311895.8:c.2013del MANE Select	ENSP00000310520.7:p.Ala672ProfsTer13
ENST00000311895.7:c.2013del	ENSP00000310520.7:p.Ala672ProfsTer13
ENST00000389138.7:n.1290del
ENST00000462862.1:c.326del	ENSP00000461322.1:n.326del
NM_005236.2:c.2013del , LRG_463t1:c.2013del	NP_005227.1:p.Ala672ProfsTer13
XM_011522424.1:c.2151del	XP_011520726.1:p.Ala718ProfsTer13
XM_011522425.1:c.1470del	XP_011520727.1:p.Ala491ProfsTer13
XM_011522426.1:c.1224del	XP_011520728.1:p.Ala409ProfsTer13
XM_011522427.1:c.663del	XP_011520729.1:p.Ala222ProfsTer13
XR_932805.1:n.2172del
XM_011522424.3:c.2151del	XP_011520726.1:p.Ala718ProfsTer13
XM_017023043.2:c.1224del	XP_016878532.1:p.Ala409ProfsTer13
NM_005236.3:c.2013del MANE Select	NP_005227.1:p.Ala672ProfsTer13