Canonical Allele Identifier: CA261494

Gene: EDA

Linked Data

• ClinVar Variation Id: 44197
• ClinVar RCV Id: RCV000694688 ; RCV002482984
• dbSNP Id: rs397516665
• gnomAD v4: X-70027865-GCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC-G
• MyVariant Identifiers: chrX:g.69247726_69247761del (hg19) ; chrX:g.70027876_70027911del (hg38)
• PubMed: PMID:9683615 ; PMID:9736768 ; PMID:11279189 ; PMID:18231121 ; PMID:18510547 ; PMID:21357618

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027876_70027911del , CM000685.2:g.70027876_70027911del	GRCh38
NC_000023.10:g.69247726_69247761del , CM000685.1:g.69247726_69247761del	GRCh37
NC_000023.9:g.69164451_69164486del	NCBI36
NG_009809.1:g.416816_416851del
NG_009809.2:g.416810_416845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.546_581del MANE Select	ENSP00000363680.4:p.Gly183_Pro194del
ENST00000374552.8:c.546_581del	ENSP00000363680.4:p.Gly183_Pro194del
ENST00000374553.6:c.546_581del	ENSP00000363681.2:p.Gly183_Pro194del
ENST00000503592.5:c.150_185del	ENSP00000423037.1:p.Gly51_Pro62del
ENST00000524573.5:c.546_581del	ENSP00000432585.1:p.Gly183_Pro194del
ENST00000616899.1:c.150_185del	ENSP00000481963.1:p.Gly51_Pro62del
NM_001005609.1:c.546_581del	NP_001005609.1:p.Gly183_Pro194del
NM_001005612.2:c.546_581del	NP_001005612.2:p.Gly183_Pro194del
NM_001399.4:c.546_581del	NP_001390.1:p.Gly183_Pro194del
XM_006724630.2:c.546_581del	XP_006724693.1:p.Gly183_Pro194del
XM_011530885.1:c.546_581del	XP_011529187.1:p.Gly183_Pro194del
XM_011530885.2:c.546_581del	XP_011529187.1:p.Gly183_Pro194del
XM_017029336.1:c.546_581del	XP_016884825.1:p.Gly183_Pro194del
NM_001399.5:c.546_581del MANE Select	NP_001390.1:p.Gly183_Pro194del
NM_001005609.2:c.546_581del	NP_001005609.1:p.Gly183_Pro194del
NM_001005612.3:c.546_581del	NP_001005612.2:p.Gly183_Pro194del