Canonical Allele Identifier: CA2499226812

Gene: EDA

Linked Data

• ClinVar Variation Id: 1076054
• ClinVar RCV Id: RCV001389804
• dbSNP Id: rs2147509660

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027915_70028027del , CM000685.2:g.70027915_70028027del	GRCh38
NC_000023.10:g.69247765_69247877del , CM000685.1:g.69247765_69247877del	GRCh37
NC_000023.9:g.69164490_69164602del	NCBI36
NG_009809.1:g.416855_416967del
NG_009809.2:g.416849_416961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.585_697del MANE Select	ENSP00000363680.4:p.Pro196ThrfsTer6
ENST00000374552.8:c.585_697del	ENSP00000363680.4:p.Pro196ThrfsTer6
ENST00000374553.6:c.585_697del	ENSP00000363681.2:p.Pro196ThrfsTer6
ENST00000503592.5:c.189_301del	ENSP00000423037.1:p.Pro64ThrfsTer6
ENST00000524573.5:c.585_697del	ENSP00000432585.1:p.Pro196ThrfsTer6
ENST00000616899.1:c.189_301del	ENSP00000481963.1:p.Pro64ThrfsTer6
NM_001005609.1:c.585_697del	NP_001005609.1:p.Pro196ThrfsTer6
NM_001005612.2:c.585_697del	NP_001005612.2:p.Pro196ThrfsTer6
NM_001399.4:c.585_697del	NP_001390.1:p.Pro196ThrfsTer6
XM_006724630.2:c.585_697del	XP_006724693.1:p.Pro196ThrfsTer6
XM_011530885.1:c.585_697del	XP_011529187.1:p.Pro196ThrfsTer6
XM_011530885.2:c.585_697del	XP_011529187.1:p.Pro196ThrfsTer6
XM_017029336.1:c.585_697del	XP_016884825.1:p.Pro196ThrfsTer6
NM_001399.5:c.585_697del MANE Select	NP_001390.1:p.Pro196ThrfsTer6
NM_001005609.2:c.585_697del	NP_001005609.1:p.Pro196ThrfsTer6
NM_001005612.3:c.585_697del	NP_001005612.2:p.Pro196ThrfsTer6