Canonical Allele Identifier: CA2821678339

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027932_70028016del , CM000685.2:g.70027932_70028016del	GRCh38
NC_000023.10:g.69247782_69247866del , CM000685.1:g.69247782_69247866del	GRCh37
NC_000023.9:g.69164507_69164591del	NCBI36
NG_009809.1:g.416872_416956del
NG_009809.2:g.416866_416950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.602_686del MANE Select	ENSP00000363680.4:p.Gly201ValfsTer?
ENST00000374552.8:c.602_686del	ENSP00000363680.4:p.Gly201ValfsTer?
ENST00000374553.6:c.602_686del	ENSP00000363681.2:p.Gly201ValfsTer?
ENST00000503592.5:c.206_290del	ENSP00000423037.1:p.Gly69ValfsTer?
ENST00000524573.5:c.602_686del	ENSP00000432585.1:p.Gly201ValfsTer?
ENST00000616899.1:c.206_290del	ENSP00000481963.1:p.Gly69ValfsTer?
NM_001005609.1:c.602_686del	NP_001005609.1:p.Gly201ValfsTer?
NM_001005612.2:c.602_686del	NP_001005612.2:p.Gly201ValfsTer?
NM_001399.4:c.602_686del	NP_001390.1:p.Gly201ValfsTer?
XM_006724630.2:c.602_686del	XP_006724693.1:p.Gly201ValfsTer?
XM_011530885.1:c.602_686del	XP_011529187.1:p.Gly201ValfsTer?
XM_011530885.2:c.602_686del	XP_011529187.1:p.Gly201ValfsTer?
XM_017029336.1:c.602_686del	XP_016884825.1:p.Gly201ValfsTer?
NM_001399.5:c.602_686del MANE Select	NP_001390.1:p.Gly201ValfsTer?
NM_001005609.2:c.602_686del	NP_001005609.1:p.Gly201ValfsTer?
NM_001005612.3:c.602_686del	NP_001005612.2:p.Gly201ValfsTer?