Canonical Allele Identifier: CA658659003

Gene: EDA

Linked Data

• ClinVar Variation Id: 458658
• ClinVar RCV Id: RCV000537831
• dbSNP Id: rs1556098384
• MyVariant Identifiers: chrX:g.69247740dup (hg19) ; chrX:g.70027890dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027890dup , CM000685.2:g.70027890dup	GRCh38
NC_000023.10:g.69247740dup , CM000685.1:g.69247740dup	GRCh37
NC_000023.9:g.69164465dup	NCBI36
NG_009809.1:g.416830dup
NG_009809.2:g.416824dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.560dup MANE Select	ENSP00000363680.4:p.Pro188SerfsTer?
ENST00000374552.8:c.560dup	ENSP00000363680.4:p.Pro188SerfsTer?
ENST00000374553.6:c.560dup	ENSP00000363681.2:p.Pro188SerfsTer?
ENST00000503592.5:c.164dup	ENSP00000423037.1:p.Pro56SerfsTer?
ENST00000524573.5:c.560dup	ENSP00000432585.1:p.Pro188SerfsTer?
ENST00000616899.1:c.164dup	ENSP00000481963.1:p.Pro56SerfsTer?
NM_001005609.1:c.560dup	NP_001005609.1:p.Pro188SerfsTer?
NM_001005612.2:c.560dup	NP_001005612.2:p.Pro188SerfsTer?
NM_001399.4:c.560dup	NP_001390.1:p.Pro188SerfsTer?
XM_006724630.2:c.560dup	XP_006724693.1:p.Pro188SerfsTer?
XM_011530885.1:c.560dup	XP_011529187.1:p.Pro188SerfsTer?
XM_011530885.2:c.560dup	XP_011529187.1:p.Pro188SerfsTer?
XM_017029336.1:c.560dup	XP_016884825.1:p.Pro188SerfsTer?
NM_001399.5:c.560dup MANE Select	NP_001390.1:p.Pro188SerfsTer?
NM_001005609.2:c.560dup	NP_001005609.1:p.Pro188SerfsTer?
NM_001005612.3:c.560dup	NP_001005612.2:p.Pro188SerfsTer?