Canonical Allele Identifier: CA261507
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44210
ClinVar RCV Id: RCV000037188
dbSNP Id: rs397516676
MyVariant Identifiers: chrX:g.69253276del (hg19) chrX:g.70033426del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033426del , CM000685.2:g.70033426del GRCh38
NC_000023.10:g.69253276del , CM000685.1:g.69253276del GRCh37
NC_000023.9:g.69170001del NCBI36
NG_009809.1:g.422366del
NG_009809.2:g.422360del

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.822del MANE Select ENSP00000363680.4:p.Trp274CysfsTer6
ENST00000374552.8:c.822del ENSP00000363680.4:p.Trp274CysfsTer6
ENST00000374553.6:c.822del ENSP00000363681.2:p.Trp274CysfsTer6
ENST00000524573.5:c.813del ENSP00000432585.1:p.Trp271CysfsTer6
ENST00000616899.1:c.426del ENSP00000481963.1:p.Trp142CysfsTer6
NM_001005609.1:c.822del NP_001005609.1:p.Trp274CysfsTer6
NM_001005612.2:c.813del NP_001005612.2:p.Trp271CysfsTer6
NM_001399.4:c.822del NP_001390.1:p.Trp274CysfsTer6
XM_006724630.2:c.813del XP_006724693.1:p.Trp271CysfsTer6
XM_011530885.1:c.822del XP_011529187.1:p.Trp274CysfsTer6
XM_011530885.2:c.822del XP_011529187.1:p.Trp274CysfsTer6
XM_017029336.1:c.822del XP_016884825.1:p.Trp274CysfsTer6
NM_001399.5:c.822del MANE Select NP_001390.1:p.Trp274CysfsTer6
NM_001005609.2:c.822del NP_001005609.1:p.Trp274CysfsTer6
NM_001005612.3:c.813del NP_001005612.2:p.Trp271CysfsTer6
Search 100 bp 5'
Search 100 bp 3'