Canonical Allele Identifier: CA2695234458

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033486_70033489del , CM000685.2:g.70033486_70033489del	GRCh38
NC_000023.10:g.69253336_69253339del , CM000685.1:g.69253336_69253339del	GRCh37
NC_000023.9:g.69170061_69170064del	NCBI36
NG_009809.1:g.422426_422429del
NG_009809.2:g.422420_422423del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.882_885del MANE Select	ENSP00000363680.4:p.Glu294AspfsTer13
ENST00000374552.8:c.882_885del	ENSP00000363680.4:p.Glu294AspfsTer13
ENST00000374553.6:c.882_885del	ENSP00000363681.2:p.Glu294AspfsTer?
ENST00000524573.5:c.873_876del	ENSP00000432585.1:p.Glu291AspfsTer?
ENST00000616899.1:c.486_489del	ENSP00000481963.1:p.Glu162AspfsTer13
NM_001005609.1:c.882_885del	NP_001005609.1:p.Glu294AspfsTer?
NM_001005612.2:c.873_876del	NP_001005612.2:p.Glu291AspfsTer?
NM_001399.4:c.882_885del	NP_001390.1:p.Glu294AspfsTer13
XM_006724630.2:c.873_876del	XP_006724693.1:p.Glu291AspfsTer13
XM_011530885.1:c.882_885del	XP_011529187.1:p.Glu294AspfsTer?
XM_011530885.2:c.882_885del	XP_011529187.1:p.Glu294AspfsTer?
XM_017029336.1:c.882_882+3del
NM_001399.5:c.882_885del MANE Select	NP_001390.1:p.Glu294AspfsTer13
NM_001005609.2:c.882_885del	NP_001005609.1:p.Glu294AspfsTer?
NM_001005612.3:c.873_876del	NP_001005612.2:p.Glu291AspfsTer?