Canonical Allele Identifier: CA2695234462

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033506_70033509del , CM000685.2:g.70033506_70033509del	GRCh38
NC_000023.10:g.69253356_69253359del , CM000685.1:g.69253356_69253359del	GRCh37
NC_000023.9:g.69170081_69170084del	NCBI36
NG_009809.1:g.422446_422449del
NG_009809.2:g.422440_422443del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.902_905del MANE Select	ENSP00000363680.4:p.Tyr301SerfsTer6
ENST00000374552.8:c.902_905del	ENSP00000363680.4:p.Tyr301SerfsTer6
ENST00000374553.6:c.902_905del	ENSP00000363681.2:p.Tyr301SerfsTer?
ENST00000524573.5:c.893_896del	ENSP00000432585.1:p.Tyr298SerfsTer?
ENST00000616899.1:c.506_509del	ENSP00000481963.1:p.Tyr169SerfsTer6
NM_001005609.1:c.902_905del	NP_001005609.1:p.Tyr301SerfsTer?
NM_001005612.2:c.893_896del	NP_001005612.2:p.Tyr298SerfsTer?
NM_001399.4:c.902_905del	NP_001390.1:p.Tyr301SerfsTer6
XM_006724630.2:c.893_896del	XP_006724693.1:p.Tyr298SerfsTer6
XM_011530885.1:c.902_905del	XP_011529187.1:p.Tyr301SerfsTer?
XM_011530885.2:c.902_905del	XP_011529187.1:p.Tyr301SerfsTer?
XM_017029336.1:c.882+20_882+23del	XP_016884825.1:n.882+20_882+23del
NM_001399.5:c.902_905del MANE Select	NP_001390.1:p.Tyr301SerfsTer6
NM_001005609.2:c.902_905del	NP_001005609.1:p.Tyr301SerfsTer?
NM_001005612.3:c.893_896del	NP_001005612.2:p.Tyr298SerfsTer?