Canonical Allele Identifier: CA261494
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44197
ClinVar RCV Id: RCV000694688 RCV002482984
dbSNP Id: rs397516665
gnomAD v4: X-70027865-GCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC-G
MyVariant Identifiers: chrX:g.69247726_69247761del (hg19) chrX:g.70027876_70027911del (hg38)
PubMed: PMID:9683615 PMID:9736768 PMID:11279189 PMID:18231121 PMID:18510547 PMID:21357618
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027876_70027911del , CM000685.2:g.70027876_70027911del GRCh38
NC_000023.10:g.69247726_69247761del , CM000685.1:g.69247726_69247761del GRCh37
NC_000023.9:g.69164451_69164486del NCBI36
NG_009809.1:g.416816_416851del
NG_009809.2:g.416810_416845del

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.546_581del MANE Select ENSP00000363680.4:p.Gly183_Pro194del
ENST00000374552.8:c.546_581del ENSP00000363680.4:p.Gly183_Pro194del
ENST00000374553.6:c.546_581del ENSP00000363681.2:p.Gly183_Pro194del
ENST00000503592.5:c.150_185del ENSP00000423037.1:p.Gly51_Pro62del
ENST00000524573.5:c.546_581del ENSP00000432585.1:p.Gly183_Pro194del
ENST00000616899.1:c.150_185del ENSP00000481963.1:p.Gly51_Pro62del
NM_001005609.1:c.546_581del NP_001005609.1:p.Gly183_Pro194del
NM_001005612.2:c.546_581del NP_001005612.2:p.Gly183_Pro194del
NM_001399.4:c.546_581del NP_001390.1:p.Gly183_Pro194del
XM_006724630.2:c.546_581del XP_006724693.1:p.Gly183_Pro194del
XM_011530885.1:c.546_581del XP_011529187.1:p.Gly183_Pro194del
XM_011530885.2:c.546_581del XP_011529187.1:p.Gly183_Pro194del
XM_017029336.1:c.546_581del XP_016884825.1:p.Gly183_Pro194del
NM_001399.5:c.546_581del MANE Select NP_001390.1:p.Gly183_Pro194del
NM_001005609.2:c.546_581del NP_001005609.1:p.Gly183_Pro194del
NM_001005612.3:c.546_581del NP_001005612.2:p.Gly183_Pro194del
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