Canonical Allele Identifier: CA133745

Gene: EDA

Linked Data

• ClinVar Variation Id: 44189
• ClinVar RCV Id: RCV000037165 ; RCV000622517
• dbSNP Id: rs397516658
• MyVariant Identifiers: chrX:g.68836325_68836327del (hg19) ; chrX:g.69616481_69616483del (hg38)
• PubMed: PMID:11295832 ; PMID:12949972 ; PMID:19921643 ; PMID:21357618 ; PMID:21457804 ; PMID:22350046 ; PMID:23553579 ; PMID:24664614 ; PMID:26325558 ; PMID:26345974

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69616481_69616483del , CM000685.2:g.69616481_69616483del	GRCh38
NC_000023.10:g.68836325_68836327del , CM000685.1:g.68836325_68836327del	GRCh37
NC_000023.9:g.68753050_68753052del	NCBI36
NG_009809.1:g.5415_5417del
NG_009809.2:g.5415_5417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.173_175del MANE Select	ENSP00000363680.4:p.Leu58del
ENST00000338901.4:c.173_175del	ENSP00000340611.4:p.Leu58del
ENST00000374548.5:n.415_417del
ENST00000374552.8:c.173_175del	ENSP00000363680.4:p.Leu58del
ENST00000374553.6:c.173_175del	ENSP00000363681.2:p.Leu58del
ENST00000502251.5:n.415_417del
ENST00000524573.5:c.173_175del	ENSP00000432585.1:p.Leu58del
ENST00000525810.5:c.173_175del	ENSP00000434195.1:p.Leu58del
ENST00000527388.5:c.173_175del	ENSP00000434861.1:p.Leu58del
ENST00000533317.5:n.415_417del
NM_001005609.1:c.173_175del	NP_001005609.1:p.Leu58del
NM_001005610.3:c.173_175del	NP_001005610.2:p.Leu58del
NM_001005612.2:c.173_175del	NP_001005612.2:p.Leu58del
NM_001005613.3:c.173_175del	NP_001005613.1:p.Leu58del
NM_001399.4:c.173_175del	NP_001390.1:p.Leu58del
XM_006724630.2:c.173_175del	XP_006724693.1:p.Leu58del
XM_011530885.1:c.173_175del	XP_011529187.1:p.Leu58del
XM_011530885.2:c.173_175del	XP_011529187.1:p.Leu58del
XM_017029336.1:c.173_175del	XP_016884825.1:p.Leu58del
XM_017029337.1:c.173_175del	XP_016884826.1:p.Leu58del
XR_001755660.1:n.396_398del
NM_001399.5:c.173_175del MANE Select	NP_001390.1:p.Leu58del
NM_001005609.2:c.173_175del	NP_001005609.1:p.Leu58del
NM_001005610.4:c.173_175del	NP_001005610.2:p.Leu58del
NM_001005612.3:c.173_175del	NP_001005612.2:p.Leu58del
NM_001005613.4:c.173_175del	NP_001005613.1:p.Leu58del