Canonical Allele Identifier: CA2695234204

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027942del , CM000685.2:g.70027942del	GRCh38
NC_000023.10:g.69247792del , CM000685.1:g.69247792del	GRCh37
NC_000023.9:g.69164517del	NCBI36
NG_009809.1:g.416882del
NG_009809.2:g.416876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.612del MANE Select	ENSP00000363680.4:p.Ile205PhefsTer?
ENST00000374552.8:c.612del	ENSP00000363680.4:p.Ile205PhefsTer?
ENST00000374553.6:c.612del	ENSP00000363681.2:p.Ile205PhefsTer?
ENST00000503592.5:c.216del	ENSP00000423037.1:p.Ile73PhefsTer?
ENST00000524573.5:c.612del	ENSP00000432585.1:p.Ile205PhefsTer?
ENST00000616899.1:c.216del	ENSP00000481963.1:p.Ile73PhefsTer?
NM_001005609.1:c.612del	NP_001005609.1:p.Ile205PhefsTer?
NM_001005612.2:c.612del	NP_001005612.2:p.Ile205PhefsTer?
NM_001399.4:c.612del	NP_001390.1:p.Ile205PhefsTer?
XM_006724630.2:c.612del	XP_006724693.1:p.Ile205PhefsTer?
XM_011530885.1:c.612del	XP_011529187.1:p.Ile205PhefsTer?
XM_011530885.2:c.612del	XP_011529187.1:p.Ile205PhefsTer?
XM_017029336.1:c.612del	XP_016884825.1:p.Ile205PhefsTer?
NM_001399.5:c.612del MANE Select	NP_001390.1:p.Ile205PhefsTer?
NM_001005609.2:c.612del	NP_001005609.1:p.Ile205PhefsTer?
NM_001005612.3:c.612del	NP_001005612.2:p.Ile205PhefsTer?