Canonical Allele Identifier: CA261481
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44187
ClinVar RCV Id: RCV000037163
dbSNP Id: rs397516656
MyVariant Identifiers: chrX:g.68836424dupG (hg19) chrX:g.69616580dupG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69616580dup , CM000685.2:g.69616580dup GRCh38
NC_000023.10:g.68836424dup , CM000685.1:g.68836424dup GRCh37
NC_000023.9:g.68753149dup NCBI36
NG_009809.1:g.5514dup
NG_009809.2:g.5514dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.272dup MANE Select ENSP00000363680.4:p.Ser91ArgfsTer9
ENST00000338901.4:c.272dup ENSP00000340611.4:p.Ser91ArgfsTer9
ENST00000374548.5:n.514dup
ENST00000374552.8:c.272dup ENSP00000363680.4:p.Ser91ArgfsTer9
ENST00000374553.6:c.272dup ENSP00000363681.2:p.Ser91ArgfsTer9
ENST00000502251.5:n.514dup
ENST00000524573.5:c.272dup ENSP00000432585.1:p.Ser91ArgfsTer9
ENST00000525810.5:c.272dup ENSP00000434195.1:p.Ser91ArgfsTer9
ENST00000527388.5:c.272dup ENSP00000434861.1:p.Ser91ArgfsTer9
ENST00000533317.5:n.514dup
NM_001005609.1:c.272dup NP_001005609.1:p.Ser91ArgfsTer9
NM_001005610.3:c.272dup NP_001005610.2:p.Ser91ArgfsTer9
NM_001005612.2:c.272dup NP_001005612.2:p.Ser91ArgfsTer9
NM_001005613.3:c.272dup NP_001005613.1:p.Ser91ArgfsTer9
NM_001399.4:c.272dup NP_001390.1:p.Ser91ArgfsTer9
XM_006724630.2:c.272dup XP_006724693.1:p.Ser91ArgfsTer9
XM_011530885.1:c.272dup XP_011529187.1:p.Ser91ArgfsTer9
XM_011530885.2:c.272dup XP_011529187.1:p.Ser91ArgfsTer9
XM_017029336.1:c.272dup XP_016884825.1:p.Ser91ArgfsTer9
XM_017029337.1:c.272dup XP_016884826.1:p.Ser91ArgfsTer9
XR_001755660.1:n.495dup
NM_001399.5:c.272dup MANE Select NP_001390.1:p.Ser91ArgfsTer9
NM_001005609.2:c.272dup NP_001005609.1:p.Ser91ArgfsTer9
NM_001005610.4:c.272dup NP_001005610.2:p.Ser91ArgfsTer9
NM_001005612.3:c.272dup NP_001005612.2:p.Ser91ArgfsTer9
NM_001005613.4:c.272dup NP_001005613.1:p.Ser91ArgfsTer9
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