Canonical Allele Identifier: CA645585456

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032565971
• gnomAD v4: 16-13948338-GA-G
• COSMIC: COSM2143650

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948343del , CM000678.2:g.13948343del	GRCh38
NC_000016.9:g.14042200del , CM000678.1:g.14042200del	GRCh37
NC_000016.8:g.13949701del	NCBI36
NG_011442.1:g.33187del , LRG_463:g.33187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2885del	ENSP00000507912.1:p.Lys962SerfsTer4
ENST00000683962.1:c.*2441del	ENSP00000506854.1:n.*2441del
ENST00000311895.8:c.2747del MANE Select	ENSP00000310520.7:p.Lys916SerfsTer4
ENST00000311895.7:c.2747del	ENSP00000310520.7:p.Lys916SerfsTer4
ENST00000389138.7:n.2024del
NM_005236.2:c.2747del , LRG_463t1:c.2747del	NP_005227.1:p.Lys916SerfsTer4
XM_011522424.1:c.2885del	XP_011520726.1:p.Lys962SerfsTer4
XM_011522425.1:c.2204del	XP_011520727.1:p.Lys735SerfsTer4
XM_011522426.1:c.1958del	XP_011520728.1:p.Lys653SerfsTer4
XM_011522427.1:c.1397del	XP_011520729.1:p.Lys466SerfsTer4
XR_932805.1:n.2906del
XM_011522424.3:c.2885del	XP_011520726.1:p.Lys962SerfsTer4
XM_017023043.2:c.1958del	XP_016878532.1:p.Lys653SerfsTer4
NM_005236.3:c.2747del MANE Select	NP_005227.1:p.Lys916SerfsTer4