Canonical Allele Identifier: CA273646

Gene: EDA

Linked Data

• ClinVar Variation Id: 179733
• ClinVar RCV Id: RCV000156531
• dbSNP Id: rs727505089
• MyVariant Identifiers: chrX:g.68836284_68836287dupGGGT (hg19) ; chrX:g.69616440_69616443dupGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69616440_69616443dup , CM000685.2:g.69616440_69616443dup	GRCh38
NC_000023.10:g.68836284_68836287dup , CM000685.1:g.68836284_68836287dup	GRCh37
NC_000023.9:g.68753009_68753012dup	NCBI36
NG_009809.1:g.5374_5377dup
NG_009809.2:g.5374_5377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.132_135dup MANE Select	ENSP00000363680.4:p.Phe46GlyfsTer?
ENST00000338901.4:c.132_135dup	ENSP00000340611.4:p.Phe46GlyfsTer?
ENST00000374548.5:n.374_377dup
ENST00000374552.8:c.132_135dup	ENSP00000363680.4:p.Phe46GlyfsTer?
ENST00000374553.6:c.132_135dup	ENSP00000363681.2:p.Phe46GlyfsTer?
ENST00000502251.5:n.374_377dup
ENST00000524573.5:c.132_135dup	ENSP00000432585.1:p.Phe46GlyfsTer?
ENST00000525810.5:c.132_135dup	ENSP00000434195.1:p.Phe46GlyfsTer?
ENST00000527388.5:c.132_135dup	ENSP00000434861.1:p.Phe46GlyfsTer?
ENST00000533317.5:n.374_377dup
NM_001005609.1:c.132_135dup	NP_001005609.1:p.Phe46GlyfsTer?
NM_001005610.3:c.132_135dup	NP_001005610.2:p.Phe46GlyfsTer?
NM_001005612.2:c.132_135dup	NP_001005612.2:p.Phe46GlyfsTer?
NM_001005613.3:c.132_135dup	NP_001005613.1:p.Phe46GlyfsTer?
NM_001399.4:c.132_135dup	NP_001390.1:p.Phe46GlyfsTer?
XM_006724630.2:c.132_135dup	XP_006724693.1:p.Phe46GlyfsTer?
XM_011530885.1:c.132_135dup	XP_011529187.1:p.Phe46GlyfsTer?
XM_011530885.2:c.132_135dup	XP_011529187.1:p.Phe46GlyfsTer?
XM_017029336.1:c.132_135dup	XP_016884825.1:p.Phe46GlyfsTer?
XM_017029337.1:c.132_135dup	XP_016884826.1:p.Phe46GlyfsTer?
XR_001755660.1:n.355_358dup
NM_001399.5:c.132_135dup MANE Select	NP_001390.1:p.Phe46GlyfsTer?
NM_001005609.2:c.132_135dup	NP_001005609.1:p.Phe46GlyfsTer?
NM_001005610.4:c.132_135dup	NP_001005610.2:p.Phe46GlyfsTer?
NM_001005612.3:c.132_135dup	NP_001005612.2:p.Phe46GlyfsTer?
NM_001005613.4:c.132_135dup	NP_001005613.1:p.Phe46GlyfsTer?