Canonical Allele Identifier: CA2693978769
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 2822020
ClinVar RCV Id: RCV003639852
dbSNP Id: rs2147509613

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027902del , CM000685.2:g.70027902del GRCh38
NC_000023.10:g.69247752del , CM000685.1:g.69247752del GRCh37
NC_000023.9:g.69164477del NCBI36
NG_009809.1:g.416842del
NG_009809.2:g.416836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.572del MANE Select ENSP00000363680.4:p.Pro191GlnfsTer?
ENST00000374552.8:c.572del ENSP00000363680.4:p.Pro191GlnfsTer?
ENST00000374553.6:c.572del ENSP00000363681.2:p.Pro191GlnfsTer?
ENST00000503592.5:c.176del ENSP00000423037.1:p.Pro59GlnfsTer?
ENST00000524573.5:c.572del ENSP00000432585.1:p.Pro191GlnfsTer?
ENST00000616899.1:c.176del ENSP00000481963.1:p.Pro59GlnfsTer?
NM_001005609.1:c.572del NP_001005609.1:p.Pro191GlnfsTer?
NM_001005612.2:c.572del NP_001005612.2:p.Pro191GlnfsTer?
NM_001399.4:c.572del NP_001390.1:p.Pro191GlnfsTer?
XM_006724630.2:c.572del XP_006724693.1:p.Pro191GlnfsTer?
XM_011530885.1:c.572del XP_011529187.1:p.Pro191GlnfsTer?
XM_011530885.2:c.572del XP_011529187.1:p.Pro191GlnfsTer?
XM_017029336.1:c.572del XP_016884825.1:p.Pro191GlnfsTer?
NM_001399.5:c.572del MANE Select NP_001390.1:p.Pro191GlnfsTer?
NM_001005609.2:c.572del NP_001005609.1:p.Pro191GlnfsTer?
NM_001005612.3:c.572del NP_001005612.2:p.Pro191GlnfsTer?