Canonical Allele Identifier: CA2631831425

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948360-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948364dup , CM000678.2:g.13948364dup	GRCh38
NC_000016.9:g.14042221dup , CM000678.1:g.14042221dup	GRCh37
NC_000016.8:g.13949722dup	NCBI36
NG_011442.1:g.33208dup , LRG_463:g.33208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*17dup	ENSP00000507912.1:n.*17dup
ENST00000683962.1:c.*2462dup	ENSP00000506854.1:n.*2462dup
ENST00000311895.8:c.*17dup MANE Select	ENSP00000310520.7:n.*17dup
ENST00000311895.7:c.*17dup	ENSP00000310520.7:n.*17dup
ENST00000389138.7:n.2045dup
NM_005236.2:c.*17dup , LRG_463t1:c.*17dup	NP_005227.1:n.*17dup
XM_011522424.1:c.*17dup	XP_011520726.1:n.*17dup
XM_011522425.1:c.*17dup	XP_011520727.1:n.*17dup
XM_011522426.1:c.*17dup	XP_011520728.1:n.*17dup
XM_011522427.1:c.*17dup	XP_011520729.1:n.*17dup
XR_932805.1:n.2927dup
XM_011522424.3:c.*17dup	XP_011520726.1:n.*17dup
XM_017023043.2:c.*17dup	XP_016878532.1:n.*17dup
NM_005236.3:c.*17dup MANE Select	NP_005227.1:n.*17dup