Canonical Allele Identifier: CA2631831443

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948404-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948405del , CM000678.2:g.13948405del	GRCh38
NC_000016.9:g.14042262del , CM000678.1:g.14042262del	GRCh37
NC_000016.8:g.13949763del	NCBI36
NG_011442.1:g.33249del , LRG_463:g.33249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*58del	ENSP00000507912.1:n.*58del
ENST00000683962.1:c.*2503del	ENSP00000506854.1:n.*2503del
ENST00000311895.8:c.*58del MANE Select	ENSP00000310520.7:n.*58del
ENST00000311895.7:c.*58del	ENSP00000310520.7:n.*58del
ENST00000389138.7:n.2086del
NM_005236.2:c.*58del , LRG_463t1:c.*58del	NP_005227.1:n.*58del
XM_011522424.1:c.*58del	XP_011520726.1:n.*58del
XM_011522425.1:c.*58del	XP_011520727.1:n.*58del
XM_011522426.1:c.*58del	XP_011520728.1:n.*58del
XM_011522427.1:c.*58del	XP_011520729.1:n.*58del
XR_932805.1:n.2968del
XM_011522424.3:c.*58del	XP_011520726.1:n.*58del
XM_017023043.2:c.*58del	XP_016878532.1:n.*58del
NM_005236.3:c.*58del MANE Select	NP_005227.1:n.*58del