Canonical Allele Identifier: CA2695234463

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033516_70033525del , CM000685.2:g.70033516_70033525del	GRCh38
NC_000023.10:g.69253366_69253375del , CM000685.1:g.69253366_69253375del	GRCh37
NC_000023.9:g.69170091_69170100del	NCBI36
NG_009809.1:g.422456_422465del
NG_009809.2:g.422450_422459del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.912_921del MANE Select	ENSP00000363680.4:p.Tyr304Ter
ENST00000374552.8:c.912_921del	ENSP00000363680.4:p.Tyr304Ter
ENST00000374553.6:c.912_918+3del
ENST00000524573.5:c.903_909+3del
ENST00000616899.1:c.516_525del	ENSP00000481963.1:p.Tyr172Ter
NM_001005609.1:c.912_918+3del
NM_001005612.2:c.903_909+3del
NM_001399.4:c.912_921del	NP_001390.1:p.Tyr304Ter
XM_006724630.2:c.903_912del	XP_006724693.1:p.Tyr301Ter
XM_011530885.1:c.912_918+3del
XM_011530885.2:c.912_918+3del
XM_017029336.1:c.882+30_882+39del	XP_016884825.1:n.882+30_882+39del
NM_001399.5:c.912_921del MANE Select	NP_001390.1:p.Tyr304Ter
NM_001005609.2:c.912_918+3del
NM_001005612.3:c.903_909+3del