Canonical Allele Identifier: CA10577174
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 228336
ClinVar RCV Id: RCV000213343
dbSNP Id: rs876657684

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69616627_69616630dup , CM000685.2:g.69616627_69616630dup GRCh38
NC_000023.10:g.68836471_68836474dup , CM000685.1:g.68836471_68836474dup GRCh37
NC_000023.9:g.68753196_68753199dup NCBI36
NG_009809.1:g.5561_5564dup
NG_009809.2:g.5561_5564dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.319_322dup MANE Select ENSP00000363680.4:p.Gln108ArgfsTer6
ENST00000338901.4:c.319_322dup ENSP00000340611.4:p.Gln108ArgfsTer6
ENST00000374548.5:n.561_564dup
ENST00000374552.8:c.319_322dup ENSP00000363680.4:p.Gln108ArgfsTer6
ENST00000374553.6:c.319_322dup ENSP00000363681.2:p.Gln108ArgfsTer6
ENST00000502251.5:n.561_564dup
ENST00000524573.5:c.319_322dup ENSP00000432585.1:p.Gln108ArgfsTer6
ENST00000525810.5:c.319_322dup ENSP00000434195.1:p.Gln108ArgfsTer6
ENST00000527388.5:c.319_322dup ENSP00000434861.1:p.Gln108ArgfsTer6
ENST00000533317.5:n.561_564dup
NM_001005609.1:c.319_322dup NP_001005609.1:p.Gln108ArgfsTer6
NM_001005610.3:c.319_322dup NP_001005610.2:p.Gln108ArgfsTer6
NM_001005612.2:c.319_322dup NP_001005612.2:p.Gln108ArgfsTer6
NM_001005613.3:c.319_322dup NP_001005613.1:p.Gln108ArgfsTer6
NM_001399.4:c.319_322dup NP_001390.1:p.Gln108ArgfsTer6
XM_006724630.2:c.319_322dup XP_006724693.1:p.Gln108ArgfsTer6
XM_011530885.1:c.319_322dup XP_011529187.1:p.Gln108ArgfsTer6
XM_011530885.2:c.319_322dup XP_011529187.1:p.Gln108ArgfsTer6
XM_017029336.1:c.319_322dup XP_016884825.1:p.Gln108ArgfsTer6
XM_017029337.1:c.319_322dup XP_016884826.1:p.Gln108ArgfsTer6
XR_001755660.1:n.542_545dup
NM_001399.5:c.319_322dup MANE Select NP_001390.1:p.Gln108ArgfsTer6
NM_001005609.2:c.319_322dup NP_001005609.1:p.Gln108ArgfsTer6
NM_001005610.4:c.319_322dup NP_001005610.2:p.Gln108ArgfsTer6
NM_001005612.3:c.319_322dup NP_001005612.2:p.Gln108ArgfsTer6
NM_001005613.4:c.319_322dup NP_001005613.1:p.Gln108ArgfsTer6