Canonical Allele Identifier: CA2580101362

Gene: EDA

Linked Data

• ClinVar Variation Id: 1709871
• ClinVar RCV Id: RCV002290213

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027863_70027874del , CM000685.2:g.70027863_70027874del	GRCh38
NC_000023.10:g.69247713_69247724del , CM000685.1:g.69247713_69247724del	GRCh37
NC_000023.9:g.69164438_69164449del	NCBI36
NG_009809.1:g.416803_416814del
NG_009809.2:g.416797_416808del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.533_544del MANE Select	ENSP00000363680.4:p.Lys178_Pro182delinsTh...
ENST00000374552.8:c.533_544del	ENSP00000363680.4:p.Lys178_Pro182delinsTh...
ENST00000374553.6:c.533_544del	ENSP00000363681.2:p.Lys178_Pro182delinsTh...
ENST00000503592.5:c.137_148del	ENSP00000423037.1:p.Lys46_Pro50delinsThr
ENST00000524573.5:c.533_544del	ENSP00000432585.1:p.Lys178_Pro182delinsTh...
ENST00000616899.1:c.137_148del	ENSP00000481963.1:p.Lys46_Pro50delinsThr
NM_001005609.1:c.533_544del	NP_001005609.1:p.Lys178_Pro182delinsThr
NM_001005612.2:c.533_544del	NP_001005612.2:p.Lys178_Pro182delinsThr
NM_001399.4:c.533_544del	NP_001390.1:p.Lys178_Pro182delinsThr
XM_006724630.2:c.533_544del	XP_006724693.1:p.Lys178_Pro182delinsThr
XM_011530885.1:c.533_544del	XP_011529187.1:p.Lys178_Pro182delinsThr
XM_011530885.2:c.533_544del	XP_011529187.1:p.Lys178_Pro182delinsThr
XM_017029336.1:c.533_544del	XP_016884825.1:p.Lys178_Pro182delinsThr
NM_001399.5:c.533_544del MANE Select	NP_001390.1:p.Lys178_Pro182delinsThr
NM_001005609.2:c.533_544del	NP_001005609.1:p.Lys178_Pro182delinsThr
NM_001005612.3:c.533_544del	NP_001005612.2:p.Lys178_Pro182delinsThr