Canonical Allele Identifier: CA2631831611
Gene: ERCC4 HGNC NCBI

Linked Data

gnomAD v4: 16-13948631-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948633del , CM000678.2:g.13948633del GRCh38
NC_000016.9:g.14042490del , CM000678.1:g.14042490del GRCh37
NC_000016.8:g.13949991del NCBI36
NG_011442.1:g.33477del , LRG_463:g.33477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*286del ENSP00000507912.1:n.*286del
ENST00000683962.1:c.*2731del ENSP00000506854.1:n.*2731del
ENST00000311895.8:c.*286del MANE Select ENSP00000310520.7:n.*286del
ENST00000311895.7:c.*286del ENSP00000310520.7:n.*286del
NM_005236.2:c.*286del , LRG_463t1:c.*286del NP_005227.1:n.*286del
XM_011522424.1:c.*286del XP_011520726.1:n.*286del
XM_011522425.1:c.*286del XP_011520727.1:n.*286del
XM_011522426.1:c.*286del XP_011520728.1:n.*286del
XM_011522427.1:c.*286del XP_011520729.1:n.*286del
XR_932805.1:n.3074-80del
XM_011522424.3:c.*286del XP_011520726.1:n.*286del
XM_017023043.2:c.*286del XP_016878532.1:n.*286del
NM_005236.3:c.*286del MANE Select NP_005227.1:n.*286del
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