Canonical Allele Identifier: CA2209083027

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948415_13948418delinsCATT , CM000678.2:g.13948415_13948418delinsCATT	GRCh38
NC_000016.9:g.14042272_14042275delinsCATT , CM000678.1:g.14042272_14042275delinsCATT	GRCh37
NC_000016.8:g.13949773_13949776delinsCATT	NCBI36
NG_011442.1:g.33259_33262delinsCATT , LRG_463:g.33259_33262delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*68_*71delinsCATT	ENSP00000507912.1:n.*68_*71delinsCATT
ENST00000683962.1:c.*2513_*2516delinsCATT	ENSP00000506854.1:n.*2513_*2516delinsCATT
ENST00000311895.8:c.*68_*71delinsCATT MANE Select	ENSP00000310520.7:n.*68_*71delinsCATT
ENST00000311895.7:c.*68_*71delinsCATT	ENSP00000310520.7:n.*68_*71delinsCATT
ENST00000389138.7:n.2096_2099delinsCATT
NM_005236.2:c.*68_*71delinsCATT , LRG_463t1:c.*68_*71delinsCATT	NP_005227.1:n.*68_*71delinsCATT
XM_011522424.1:c.*68_*71delinsCATT	XP_011520726.1:n.*68_*71delinsCATT
XM_011522425.1:c.*68_*71delinsCATT	XP_011520727.1:n.*68_*71delinsCATT
XM_011522426.1:c.*68_*71delinsCATT	XP_011520728.1:n.*68_*71delinsCATT
XM_011522427.1:c.*68_*71delinsCATT	XP_011520729.1:n.*68_*71delinsCATT
XR_932805.1:n.2978_2981delinsCATT
XM_011522424.3:c.*68_*71delinsCATT	XP_011520726.1:n.*68_*71delinsCATT
XM_017023043.2:c.*68_*71delinsCATT	XP_016878532.1:n.*68_*71delinsCATT
NM_005236.3:c.*68_*71delinsCATT MANE Select	NP_005227.1:n.*68_*71delinsCATT