Canonical Allele Identifier: CA915951151

Gene: EDA

Linked Data

• ClinVar Variation Id: 651933
• ClinVar RCV Id: RCV000807385
• dbSNP Id: rs1556098570
• gnomAD v4: X-70027924-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027929del , CM000685.2:g.70027929del	GRCh38
NC_000023.10:g.69247779del , CM000685.1:g.69247779del	GRCh37
NC_000023.9:g.69164504del	NCBI36
NG_009809.1:g.416869del
NG_009809.2:g.416863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.599del MANE Select	ENSP00000363680.4:p.Pro200GlnfsTer?
ENST00000374552.8:c.599del	ENSP00000363680.4:p.Pro200GlnfsTer?
ENST00000374553.6:c.599del	ENSP00000363681.2:p.Pro200GlnfsTer?
ENST00000503592.5:c.203del	ENSP00000423037.1:p.Pro68GlnfsTer?
ENST00000524573.5:c.599del	ENSP00000432585.1:p.Pro200GlnfsTer?
ENST00000616899.1:c.203del	ENSP00000481963.1:p.Pro68GlnfsTer?
NM_001005609.1:c.599del	NP_001005609.1:p.Pro200GlnfsTer?
NM_001005612.2:c.599del	NP_001005612.2:p.Pro200GlnfsTer?
NM_001399.4:c.599del	NP_001390.1:p.Pro200GlnfsTer?
XM_006724630.2:c.599del	XP_006724693.1:p.Pro200GlnfsTer?
XM_011530885.1:c.599del	XP_011529187.1:p.Pro200GlnfsTer?
XM_011530885.2:c.599del	XP_011529187.1:p.Pro200GlnfsTer?
XM_017029336.1:c.599del	XP_016884825.1:p.Pro200GlnfsTer?
NM_001399.5:c.599del MANE Select	NP_001390.1:p.Pro200GlnfsTer?
NM_001005609.2:c.599del	NP_001005609.1:p.Pro200GlnfsTer?
NM_001005612.3:c.599del	NP_001005612.2:p.Pro200GlnfsTer?