Canonical Allele Identifier: CA261496
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44198
ClinVar RCV Id: RCV001550550
dbSNP Id: rs397516666
MyVariant Identifiers: chrX:g.69247733_69247768del (hg19) chrX:g.70027883_70027918del (hg38)
PubMed: PMID:9683615 PMID:11279189 PMID:18510547 PMID:21357618
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027883_70027918del , CM000685.2:g.70027883_70027918del GRCh38
NC_000023.10:g.69247733_69247768del , CM000685.1:g.69247733_69247768del GRCh37
NC_000023.9:g.69164458_69164493del NCBI36
NG_009809.1:g.416823_416858del
NG_009809.2:g.416817_416852del

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.553_588del MANE Select ENSP00000363680.4:p.Asn185_Pro196del
ENST00000374552.8:c.553_588del ENSP00000363680.4:p.Asn185_Pro196del
ENST00000374553.6:c.553_588del ENSP00000363681.2:p.Asn185_Pro196del
ENST00000503592.5:c.157_192del ENSP00000423037.1:p.Asn53_Pro64del
ENST00000524573.5:c.553_588del ENSP00000432585.1:p.Asn185_Pro196del
ENST00000616899.1:c.157_192del ENSP00000481963.1:p.Asn53_Pro64del
NM_001005609.1:c.553_588del NP_001005609.1:p.Asn185_Pro196del
NM_001005612.2:c.553_588del NP_001005612.2:p.Asn185_Pro196del
NM_001399.4:c.553_588del NP_001390.1:p.Asn185_Pro196del
XM_006724630.2:c.553_588del XP_006724693.1:p.Asn185_Pro196del
XM_011530885.1:c.553_588del XP_011529187.1:p.Asn185_Pro196del
XM_011530885.2:c.553_588del XP_011529187.1:p.Asn185_Pro196del
XM_017029336.1:c.553_588del XP_016884825.1:p.Asn185_Pro196del
NM_001399.5:c.553_588del MANE Select NP_001390.1:p.Asn185_Pro196del
NM_001005609.2:c.553_588del NP_001005609.1:p.Asn185_Pro196del
NM_001005612.3:c.553_588del NP_001005612.2:p.Asn185_Pro196del
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