Canonical Allele Identifier: CA2695234457

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033479_70033500del , CM000685.2:g.70033479_70033500del	GRCh38
NC_000023.10:g.69253329_69253350del , CM000685.1:g.69253329_69253350del	GRCh37
NC_000023.9:g.69170054_69170075del	NCBI36
NG_009809.1:g.422419_422440del
NG_009809.2:g.422413_422434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.875_896del MANE Select	ENSP00000363680.4:p.Glu292AlafsTer9
ENST00000374552.8:c.875_896del	ENSP00000363680.4:p.Glu292AlafsTer9
ENST00000374553.6:c.875_896del	ENSP00000363681.2:p.Glu292AlafsTer?
ENST00000524573.5:c.866_887del	ENSP00000432585.1:p.Glu289AlafsTer?
ENST00000616899.1:c.479_500del	ENSP00000481963.1:p.Glu160AlafsTer9
NM_001005609.1:c.875_896del	NP_001005609.1:p.Glu292AlafsTer?
NM_001005612.2:c.866_887del	NP_001005612.2:p.Glu289AlafsTer?
NM_001399.4:c.875_896del	NP_001390.1:p.Glu292AlafsTer9
XM_006724630.2:c.866_887del	XP_006724693.1:p.Glu289AlafsTer9
XM_011530885.1:c.875_896del	XP_011529187.1:p.Glu292AlafsTer?
XM_011530885.2:c.875_896del	XP_011529187.1:p.Glu292AlafsTer?
XM_017029336.1:c.875_882+14del
NM_001399.5:c.875_896del MANE Select	NP_001390.1:p.Glu292AlafsTer9
NM_001005609.2:c.875_896del	NP_001005609.1:p.Glu292AlafsTer?
NM_001005612.3:c.866_887del	NP_001005612.2:p.Glu289AlafsTer?