Canonical Allele Identifier: CA2209082754

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947884del , CM000678.2:g.13947884del	GRCh38
NC_000016.9:g.14041741del , CM000678.1:g.14041741del	GRCh37
NC_000016.8:g.13949242del	NCBI36
NG_011442.1:g.32728del , LRG_463:g.32728del

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2288del MANE Select	NP_005227.1:p.Pro763LeufsTer?
ENST00000311895.8:c.2288del MANE Select	ENSP00000310520.7:p.Pro763LeufsTer?
NM_005236.2:c.2288del , LRG_463t1:c.2288del	NP_005227.1:p.Pro763LeufsTer?
ENST00000311895.7:c.2288del	ENSP00000310520.7:p.Pro763LeufsTer?
ENST00000389138.7:n.1565del
ENST00000462862.1:c.601del	ENSP00000461322.1:n.601del
ENST00000682617.1:c.2426del	ENSP00000507912.1:p.Pro809LeufsTer?
ENST00000683962.1:c.*1982del	ENSP00000506854.1:n.*1982del
XM_011522424.1:c.2426del	XP_011520726.1:p.Pro809LeufsTer?
XM_011522424.3:c.2426del	XP_011520726.1:p.Pro809LeufsTer?
XM_011522425.1:c.1745del	XP_011520727.1:p.Pro582LeufsTer?
XM_011522426.1:c.1499del	XP_011520728.1:p.Pro500LeufsTer?
XM_011522427.1:c.938del	XP_011520729.1:p.Pro313LeufsTer?
XM_017023043.2:c.1499del	XP_016878532.1:p.Pro500LeufsTer?
XR_932805.1:n.2447del