Canonical Allele Identifier: CA2631831440
Gene: ERCC4 HGNC NCBI

Linked Data

gnomAD v4: 16-13948399-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948401del , CM000678.2:g.13948401del GRCh38
NC_000016.9:g.14042258del , CM000678.1:g.14042258del GRCh37
NC_000016.8:g.13949759del NCBI36
NG_011442.1:g.33245del , LRG_463:g.33245del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*54del ENSP00000507912.1:n.*54del
ENST00000683962.1:c.*2499del ENSP00000506854.1:n.*2499del
ENST00000311895.8:c.*54del MANE Select ENSP00000310520.7:n.*54del
ENST00000311895.7:c.*54del ENSP00000310520.7:n.*54del
ENST00000389138.7:n.2082del
NM_005236.2:c.*54del , LRG_463t1:c.*54del NP_005227.1:n.*54del
XM_011522424.1:c.*54del XP_011520726.1:n.*54del
XM_011522425.1:c.*54del XP_011520727.1:n.*54del
XM_011522426.1:c.*54del XP_011520728.1:n.*54del
XM_011522427.1:c.*54del XP_011520729.1:n.*54del
XR_932805.1:n.2964del
XM_011522424.3:c.*54del XP_011520726.1:n.*54del
XM_017023043.2:c.*54del XP_016878532.1:n.*54del
NM_005236.3:c.*54del MANE Select NP_005227.1:n.*54del
Search 100 bp 5'
Search 100 bp 3'