Canonical Allele Identifier: CA718306641
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1311057184

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948666_13948667del , CM000678.2:g.13948666_13948667del GRCh38
NC_000016.9:g.14042523_14042524del , CM000678.1:g.14042523_14042524del GRCh37
NC_000016.8:g.13950024_13950025del NCBI36
NG_011442.1:g.33510_33511del , LRG_463:g.33510_33511del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*319_*320del ENSP00000507912.1:n.*319_*320del
ENST00000683962.1:c.*2764_*2765del ENSP00000506854.1:n.*2764_*2765del
ENST00000311895.8:c.*319_*320del MANE Select ENSP00000310520.7:n.*319_*320del
ENST00000311895.7:c.*319_*320del ENSP00000310520.7:n.*319_*320del
NM_005236.2:c.*319_*320del , LRG_463t1:c.*319_*320del NP_005227.1:n.*319_*320del
XM_011522424.1:c.*319_*320del XP_011520726.1:n.*319_*320del
XM_011522425.1:c.*319_*320del XP_011520727.1:n.*319_*320del
XM_011522426.1:c.*319_*320del XP_011520728.1:n.*319_*320del
XM_011522427.1:c.*319_*320del XP_011520729.1:n.*319_*320del
XR_932805.1:n.3074-47_3074-46del
XM_011522424.3:c.*319_*320del XP_011520726.1:n.*319_*320del
XM_017023043.2:c.*319_*320del XP_016878532.1:n.*319_*320del
NM_005236.3:c.*319_*320del MANE Select NP_005227.1:n.*319_*320del