Canonical Allele Identifier: CA2631831475

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948466-TTGTACGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948469_13948475del , CM000678.2:g.13948469_13948475del	GRCh38
NC_000016.9:g.14042326_14042332del , CM000678.1:g.14042326_14042332del	GRCh37
NC_000016.8:g.13949827_13949833del	NCBI36
NG_011442.1:g.33313_33319del , LRG_463:g.33313_33319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*122_*128del	ENSP00000507912.1:n.*122_*128del
ENST00000683962.1:c.*2567_*2573del	ENSP00000506854.1:n.*2567_*2573del
ENST00000311895.8:c.*122_*128del MANE Select	ENSP00000310520.7:n.*122_*128del
ENST00000311895.7:c.*122_*128del	ENSP00000310520.7:n.*122_*128del
NM_005236.2:c.*122_*128del , LRG_463t1:c.*122_*128del	NP_005227.1:n.*122_*128del
XM_011522424.1:c.*122_*128del	XP_011520726.1:n.*122_*128del
XM_011522425.1:c.*122_*128del	XP_011520727.1:n.*122_*128del
XM_011522426.1:c.*122_*128del	XP_011520728.1:n.*122_*128del
XM_011522427.1:c.*122_*128del	XP_011520729.1:n.*122_*128del
XR_932805.1:n.3032_3038del
XM_011522424.3:c.*122_*128del	XP_011520726.1:n.*122_*128del
XM_017023043.2:c.*122_*128del	XP_016878532.1:n.*122_*128del
NM_005236.3:c.*122_*128del MANE Select	NP_005227.1:n.*122_*128del