Canonical Allele Identifier: CA658798545
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 541251
ClinVar RCV Id: RCV000651478
dbSNP Id: rs1555468482

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935663del , CM000678.2:g.13935663del GRCh38
NC_000016.9:g.14029520del , CM000678.1:g.14029520del GRCh37
NC_000016.8:g.13937021del NCBI36
NG_011442.1:g.20507del , LRG_463:g.20507del

Transcript Alleles

HGVS Amino-acid change
ENST00000311895.8:c.1731del MANE Select ENSP00000310520.7:p.Tyr577Ter
ENST00000311895.7:c.1731del ENSP00000310520.7:p.Tyr577Ter
ENST00000389138.7:n.1008del
NM_005236.2:c.1731del , LRG_463t1:c.1731del NP_005227.1:p.Tyr577Ter
XM_011522424.1:c.1869del XP_011520726.1:p.Tyr623Ter
XM_011522425.1:c.1188del XP_011520727.1:p.Tyr396Ter
XM_011522426.1:c.942del XP_011520728.1:p.Tyr314Ter
XM_011522427.1:c.381del XP_011520729.1:p.Tyr127Ter
XR_932805.1:n.1890del
XM_011522424.3:c.1869del XP_011520726.1:p.Tyr623Ter
XM_017023043.2:c.942del XP_016878532.1:p.Tyr314Ter
NM_005236.3:c.1731del MANE Select NP_005227.1:p.Tyr577Ter