Canonical Allele Identifier: CA019402
Gene: EDARADD HGNC NCBI

Linked Data

ClinVar Variation Id: 65754
ClinVar RCV Id: RCV001729373
dbSNP Id: rs397515575
MyVariant Identifiers: chr1:g.236645703_236645708del (hg19) chr1:g.236482403_236482408del (hg38)
PubMed: PMID:20222921 PMID:20301291
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236482403_236482408del , CM000663.2:g.236482403_236482408del GRCh38
NC_000001.10:g.236645703_236645708del , CM000663.1:g.236645703_236645708del GRCh37
NC_000001.9:g.234712326_234712331del NCBI36
NG_011566.1:g.93024_93029del

Transcript Alleles

HGVS Amino-acid change
ENST00000334232.9:c.402_407del MANE Select ENSP00000335076.4:p.Thr135_Val136del
ENST00000359362.6:c.372_377del ENSP00000352320.4:p.Thr125_Val126del
ENST00000637660.1:c.336_341del ENSP00000490347.1:p.Thr113_Val114del
ENST00000642595.1:c.236-9334_236-9329del ENSP00000494458.1:n.236-9334_236-9329del
ENST00000334232.8:c.402_407del ENSP00000335076.4:p.Thr135_Val136del
ENST00000359362.5:c.372_377del ENSP00000352320.4:p.Thr125_Val126del
NM_080738.3:c.372_377del NP_542776.1:p.Thr125_Val126del
NM_145861.2:c.402_407del NP_665860.2:p.Thr135_Val136del
NM_080738.4:c.372_377del NP_542776.1:p.Thr125_Val126del
NM_145861.4:c.402_407del MANE Select NP_665860.2:p.Thr135_Val136del
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