Canonical Allele Identifier: CA658659004

Gene: EDA

Linked Data

• ClinVar Variation Id: 449013
• ClinVar RCV Id: RCV000520012
• dbSNP Id: rs1556098553
• MyVariant Identifiers: chrX:g.69247773del (hg19) ; chrX:g.70027923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027923del , CM000685.2:g.70027923del	GRCh38
NC_000023.10:g.69247773del , CM000685.1:g.69247773del	GRCh37
NC_000023.9:g.69164498del	NCBI36
NG_009809.1:g.416863del
NG_009809.2:g.416857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.593del MANE Select	ENSP00000363680.4:p.Gly198AspfsTer?
ENST00000374552.8:c.593del	ENSP00000363680.4:p.Gly198AspfsTer?
ENST00000374553.6:c.593del	ENSP00000363681.2:p.Gly198AspfsTer?
ENST00000503592.5:c.197del	ENSP00000423037.1:p.Gly66AspfsTer?
ENST00000524573.5:c.593del	ENSP00000432585.1:p.Gly198AspfsTer?
ENST00000616899.1:c.197del	ENSP00000481963.1:p.Gly66AspfsTer?
NM_001005609.1:c.593del	NP_001005609.1:p.Gly198AspfsTer?
NM_001005612.2:c.593del	NP_001005612.2:p.Gly198AspfsTer?
NM_001399.4:c.593del	NP_001390.1:p.Gly198AspfsTer?
XM_006724630.2:c.593del	XP_006724693.1:p.Gly198AspfsTer?
XM_011530885.1:c.593del	XP_011529187.1:p.Gly198AspfsTer?
XM_011530885.2:c.593del	XP_011529187.1:p.Gly198AspfsTer?
XM_017029336.1:c.593del	XP_016884825.1:p.Gly198AspfsTer?
NM_001399.5:c.593del MANE Select	NP_001390.1:p.Gly198AspfsTer?
NM_001005609.2:c.593del	NP_001005609.1:p.Gly198AspfsTer?
NM_001005612.3:c.593del	NP_001005612.2:p.Gly198AspfsTer?