Canonical Allele Identifier: CA2695234454

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033435del , CM000685.2:g.70033435del	GRCh38
NC_000023.10:g.69253285del , CM000685.1:g.69253285del	GRCh37
NC_000023.9:g.69170010del	NCBI36
NG_009809.1:g.422375del
NG_009809.2:g.422369del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.831del MANE Select	ENSP00000363680.4:p.Thr278LeufsTer2
ENST00000374552.8:c.831del	ENSP00000363680.4:p.Thr278LeufsTer2
ENST00000374553.6:c.831del	ENSP00000363681.2:p.Thr278LeufsTer2
ENST00000524573.5:c.822del	ENSP00000432585.1:p.Thr275LeufsTer2
ENST00000616899.1:c.435del	ENSP00000481963.1:p.Thr146LeufsTer2
NM_001005609.1:c.831del	NP_001005609.1:p.Thr278LeufsTer2
NM_001005612.2:c.822del	NP_001005612.2:p.Thr275LeufsTer2
NM_001399.4:c.831del	NP_001390.1:p.Thr278LeufsTer2
XM_006724630.2:c.822del	XP_006724693.1:p.Thr275LeufsTer2
XM_011530885.1:c.831del	XP_011529187.1:p.Thr278LeufsTer2
XM_011530885.2:c.831del	XP_011529187.1:p.Thr278LeufsTer2
XM_017029336.1:c.831del	XP_016884825.1:p.Thr278LeufsTer2
NM_001399.5:c.831del MANE Select	NP_001390.1:p.Thr278LeufsTer2
NM_001005609.2:c.831del	NP_001005609.1:p.Thr278LeufsTer2
NM_001005612.3:c.822del	NP_001005612.2:p.Thr275LeufsTer2