Canonical Allele Identifier: CA2695222825

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947720del , CM000678.2:g.13947720del	GRCh38
NC_000016.9:g.14041577del , CM000678.1:g.14041577del	GRCh37
NC_000016.8:g.13949078del	NCBI36
NG_011442.1:g.32564del , LRG_463:g.32564del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2262del	ENSP00000507912.1:p.Val755Ter
ENST00000683962.1:c.*1818del	ENSP00000506854.1:n.*1818del
ENST00000311895.8:c.2124del MANE Select	ENSP00000310520.7:p.Val709Ter
ENST00000311895.7:c.2124del	ENSP00000310520.7:p.Val709Ter
ENST00000389138.7:n.1401del
ENST00000462862.1:c.437del	ENSP00000461322.1:n.437del
NM_005236.2:c.2124del , LRG_463t1:c.2124del	NP_005227.1:p.Val709Ter
XM_011522424.1:c.2262del	XP_011520726.1:p.Val755Ter
XM_011522425.1:c.1581del	XP_011520727.1:p.Val528Ter
XM_011522426.1:c.1335del	XP_011520728.1:p.Val446Ter
XM_011522427.1:c.774del	XP_011520729.1:p.Val259Ter
XR_932805.1:n.2283del
XM_011522424.3:c.2262del	XP_011520726.1:p.Val755Ter
XM_017023043.2:c.1335del	XP_016878532.1:p.Val446Ter
NM_005236.3:c.2124del MANE Select	NP_005227.1:p.Val709Ter