Canonical Allele Identifier: CA261497

Gene: EDA

Linked Data

• ClinVar Variation Id: 44199
• ClinVar RCV Id: RCV000037177
• dbSNP Id: rs397516667
• MyVariant Identifiers: chrX:g.69247742_69247769del (hg19) ; chrX:g.70027892_70027919del (hg38)
• PubMed: PMID:9683615

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027892_70027919del , CM000685.2:g.70027892_70027919del	GRCh38
NC_000023.10:g.69247742_69247769del , CM000685.1:g.69247742_69247769del	GRCh37
NC_000023.9:g.69164467_69164494del	NCBI36
NG_009809.1:g.416832_416859del
NG_009809.2:g.416826_416853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.562_589del MANE Select	ENSP00000363680.4:p.Pro188ArgfsTer?
ENST00000374552.8:c.562_589del	ENSP00000363680.4:p.Pro188ArgfsTer?
ENST00000374553.6:c.562_589del	ENSP00000363681.2:p.Pro188ArgfsTer?
ENST00000503592.5:c.166_193del	ENSP00000423037.1:p.Pro56ArgfsTer?
ENST00000524573.5:c.562_589del	ENSP00000432585.1:p.Pro188ArgfsTer?
ENST00000616899.1:c.166_193del	ENSP00000481963.1:p.Pro56ArgfsTer?
NM_001005609.1:c.562_589del	NP_001005609.1:p.Pro188ArgfsTer?
NM_001005612.2:c.562_589del	NP_001005612.2:p.Pro188ArgfsTer?
NM_001399.4:c.562_589del	NP_001390.1:p.Pro188ArgfsTer?
XM_006724630.2:c.562_589del	XP_006724693.1:p.Pro188ArgfsTer?
XM_011530885.1:c.562_589del	XP_011529187.1:p.Pro188ArgfsTer?
XM_011530885.2:c.562_589del	XP_011529187.1:p.Pro188ArgfsTer?
XM_017029336.1:c.562_589del	XP_016884825.1:p.Pro188ArgfsTer?
NM_001399.5:c.562_589del MANE Select	NP_001390.1:p.Pro188ArgfsTer?
NM_001005609.2:c.562_589del	NP_001005609.1:p.Pro188ArgfsTer?
NM_001005612.3:c.562_589del	NP_001005612.2:p.Pro188ArgfsTer?