Canonical Allele Identifier: CA642473171

Gene: EDA

Linked Data

• ClinVar Variation Id: 2716467
• ClinVar RCV Id: RCV003522191
• dbSNP Id: rs1326976532
• gnomAD v2: X-69247831-TGGTCCTCCA-T
• gnomAD v3: X-70027981-TGGTCCTCCA-T
• gnomAD v4: X-70027981-TGGTCCTCCA-T
• MyVariant Identifiers: chrX:g.69247832_69247840del (hg19) ; chrX:g.70027982_70027990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027990_70027998del , CM000685.2:g.70027990_70027998del	GRCh38
NC_000023.10:g.69247840_69247848del , CM000685.1:g.69247840_69247848del	GRCh37
NC_000023.9:g.69164565_69164573del	NCBI36
NG_009809.1:g.416930_416938del
NG_009809.2:g.416924_416932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.660_668del MANE Select	ENSP00000363680.4:p.Gly221_Pro223del
ENST00000374552.8:c.660_668del	ENSP00000363680.4:p.Gly221_Pro223del
ENST00000374553.6:c.660_668del	ENSP00000363681.2:p.Gly221_Pro223del
ENST00000503592.5:c.264_272del	ENSP00000423037.1:p.Gly89_Pro91del
ENST00000524573.5:c.660_668del	ENSP00000432585.1:p.Gly221_Pro223del
ENST00000616899.1:c.264_272del	ENSP00000481963.1:p.Gly89_Pro91del
NM_001005609.1:c.660_668del	NP_001005609.1:p.Gly221_Pro223del
NM_001005612.2:c.660_668del	NP_001005612.2:p.Gly221_Pro223del
NM_001399.4:c.660_668del	NP_001390.1:p.Gly221_Pro223del
XM_006724630.2:c.660_668del	XP_006724693.1:p.Gly221_Pro223del
XM_011530885.1:c.660_668del	XP_011529187.1:p.Gly221_Pro223del
XM_011530885.2:c.660_668del	XP_011529187.1:p.Gly221_Pro223del
XM_017029336.1:c.660_668del	XP_016884825.1:p.Gly221_Pro223del
NM_001399.5:c.660_668del MANE Select	NP_001390.1:p.Gly221_Pro223del
NM_001005609.2:c.660_668del	NP_001005609.1:p.Gly221_Pro223del
NM_001005612.3:c.660_668del	NP_001005612.2:p.Gly221_Pro223del