Canonical Allele Identifier: CA658799777

Gene: EDA

Linked Data

• ClinVar Variation Id: 528354
• ClinVar RCV Id: RCV000633501
• dbSNP Id: rs1556098978
• MyVariant Identifiers: chrX:g.69247861_69247877del (hg19) ; chrX:g.70028011_70028027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70028011_70028027del , CM000685.2:g.70028011_70028027del	GRCh38
NC_000023.10:g.69247861_69247877del , CM000685.1:g.69247861_69247877del	GRCh37
NC_000023.9:g.69164586_69164602del	NCBI36
NG_009809.1:g.416951_416967del
NG_009809.2:g.416945_416961del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.681_697del MANE Select	ENSP00000363680.4:p.Pro228ThrfsTer6
ENST00000374552.8:c.681_697del	ENSP00000363680.4:p.Pro228ThrfsTer6
ENST00000374553.6:c.681_697del	ENSP00000363681.2:p.Pro228ThrfsTer6
ENST00000503592.5:c.285_301del	ENSP00000423037.1:p.Pro96ThrfsTer6
ENST00000524573.5:c.681_697del	ENSP00000432585.1:p.Pro228ThrfsTer6
ENST00000616899.1:c.285_301del	ENSP00000481963.1:p.Pro96ThrfsTer6
NM_001005609.1:c.681_697del	NP_001005609.1:p.Pro228ThrfsTer6
NM_001005612.2:c.681_697del	NP_001005612.2:p.Pro228ThrfsTer6
NM_001399.4:c.681_697del	NP_001390.1:p.Pro228ThrfsTer6
XM_006724630.2:c.681_697del	XP_006724693.1:p.Pro228ThrfsTer6
XM_011530885.1:c.681_697del	XP_011529187.1:p.Pro228ThrfsTer6
XM_011530885.2:c.681_697del	XP_011529187.1:p.Pro228ThrfsTer6
XM_017029336.1:c.681_697del	XP_016884825.1:p.Pro228ThrfsTer6
NM_001399.5:c.681_697del MANE Select	NP_001390.1:p.Pro228ThrfsTer6
NM_001005609.2:c.681_697del	NP_001005609.1:p.Pro228ThrfsTer6
NM_001005612.3:c.681_697del	NP_001005612.2:p.Pro228ThrfsTer6