Canonical Allele Identifier: CA16043299
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 372765
ClinVar RCV Id: RCV000413757
dbSNP Id: rs1057517971
MyVariant Identifiers: chrX:g.68836397del (hg19) chrX:g.69616553del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69616553del , CM000685.2:g.69616553del GRCh38
NC_000023.10:g.68836397del , CM000685.1:g.68836397del GRCh37
NC_000023.9:g.68753122del NCBI36
NG_009809.1:g.5487del
NG_009809.2:g.5487del

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.245del MANE Select ENSP00000363680.4:p.Gly82AlafsTer9
ENST00000338901.4:c.245del ENSP00000340611.4:p.Gly82AlafsTer9
ENST00000374548.5:n.487del
ENST00000374552.8:c.245del ENSP00000363680.4:p.Gly82AlafsTer9
ENST00000374553.6:c.245del ENSP00000363681.2:p.Gly82AlafsTer9
ENST00000502251.5:n.487del
ENST00000524573.5:c.245del ENSP00000432585.1:p.Gly82AlafsTer9
ENST00000525810.5:c.245del ENSP00000434195.1:p.Gly82AlafsTer9
ENST00000527388.5:c.245del ENSP00000434861.1:p.Gly82AlafsTer9
ENST00000533317.5:n.487del
NM_001005609.1:c.245del NP_001005609.1:p.Gly82AlafsTer9
NM_001005610.3:c.245del NP_001005610.2:p.Gly82AlafsTer9
NM_001005612.2:c.245del NP_001005612.2:p.Gly82AlafsTer9
NM_001005613.3:c.245del NP_001005613.1:p.Gly82AlafsTer9
NM_001399.4:c.245del NP_001390.1:p.Gly82AlafsTer9
XM_006724630.2:c.245del XP_006724693.1:p.Gly82AlafsTer9
XM_011530885.1:c.245del XP_011529187.1:p.Gly82AlafsTer9
XM_011530885.2:c.245del XP_011529187.1:p.Gly82AlafsTer9
XM_017029336.1:c.245del XP_016884825.1:p.Gly82AlafsTer9
XM_017029337.1:c.245del XP_016884826.1:p.Gly82AlafsTer9
XR_001755660.1:n.468del
NM_001399.5:c.245del MANE Select NP_001390.1:p.Gly82AlafsTer9
NM_001005609.2:c.245del NP_001005609.1:p.Gly82AlafsTer9
NM_001005610.4:c.245del NP_001005610.2:p.Gly82AlafsTer9
NM_001005612.3:c.245del NP_001005612.2:p.Gly82AlafsTer9
NM_001005613.4:c.245del NP_001005613.1:p.Gly82AlafsTer9
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