Canonical Allele Identifier: CA16603229
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 377008
ClinVar RCV Id: RCV000420009
dbSNP Id: rs1057520104
MyVariant Identifiers: chr16:g.14022053del (hg19) chr16:g.13928196del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13928198del , CM000678.2:g.13928198del GRCh38
NC_000016.9:g.14022055del , CM000678.1:g.14022055del GRCh37
NC_000016.8:g.13929556del NCBI36
NG_011442.1:g.13042del , LRG_463:g.13042del

Transcript Alleles

HGVS Amino-acid change
ENST00000682552.1:n.743del
ENST00000682568.1:n.685del
ENST00000682617.1:c.893del ENSP00000507912.1:p.Leu298TyrfsTer3
ENST00000682826.1:c.755del ENSP00000507274.1:p.Leu252TyrfsTer3
ENST00000682909.1:n.2795del
ENST00000683277.1:n.2400del
ENST00000683407.1:n.763del
ENST00000683962.1:c.*449del ENSP00000506854.1:n.*449del
ENST00000311895.8:c.755del MANE Select ENSP00000310520.7:p.Leu252TyrfsTer3
ENST00000311895.7:c.755del ENSP00000310520.7:p.Leu252TyrfsTer3
ENST00000574194.1:c.282del
ENST00000574781.1:n.432del
ENST00000575156.5:c.755del ENSP00000459933.1:p.Leu252TyrfsTer3
NM_005236.2:c.755del , LRG_463t1:c.755del NP_005227.1:p.Leu252TyrfsTer3
XM_011522424.1:c.893del XP_011520726.1:p.Leu298TyrfsTer3
XM_011522425.1:c.212del XP_011520727.1:p.Leu71TyrfsTer3
XR_932805.1:n.914del
XM_011522424.3:c.893del XP_011520726.1:p.Leu298TyrfsTer3
XM_017023043.2:c.-183del XP_016878532.1:n.-183del
NM_005236.3:c.755del MANE Select NP_005227.1:p.Leu252TyrfsTer3
Search 100 bp 5'
Search 100 bp 3'