Canonical Allele Identifier: CA273143

Gene: EDA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033413del , CM000685.2:g.70033413del	GRCh38
NC_000023.10:g.69253263del , CM000685.1:g.69253263del	GRCh37
NC_000023.9:g.69169988del	NCBI36
NG_009809.1:g.422353del
NG_009809.2:g.422347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.809del MANE Select	ENSP00000363680.4:p.Val270GlyfsTer10
ENST00000374552.8:c.809del	ENSP00000363680.4:p.Val270GlyfsTer10
ENST00000374553.6:c.809del	ENSP00000363681.2:p.Val270GlyfsTer10
ENST00000524573.5:c.800del	ENSP00000432585.1:p.Val267GlyfsTer10
ENST00000616899.1:c.413del	ENSP00000481963.1:p.Val138GlyfsTer10
NM_001005609.1:c.809del	NP_001005609.1:p.Val270GlyfsTer10
NM_001005612.2:c.800del	NP_001005612.2:p.Val267GlyfsTer10
NM_001399.4:c.809del	NP_001390.1:p.Val270GlyfsTer10
XM_006724630.2:c.800del	XP_006724693.1:p.Val267GlyfsTer10
XM_011530885.1:c.809del	XP_011529187.1:p.Val270GlyfsTer10
XM_011530885.2:c.809del	XP_011529187.1:p.Val270GlyfsTer10
XM_017029336.1:c.809del	XP_016884825.1:p.Val270GlyfsTer10
NM_001399.5:c.809del MANE Select	NP_001390.1:p.Val270GlyfsTer10
NM_001005609.2:c.809del	NP_001005609.1:p.Val270GlyfsTer10
NM_001005612.3:c.800del	NP_001005612.2:p.Val267GlyfsTer10