Canonical Allele Identifier: CA2695234465

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033519_70033526del , CM000685.2:g.70033519_70033526del	GRCh38
NC_000023.10:g.69253369_69253376del , CM000685.1:g.69253369_69253376del	GRCh37
NC_000023.9:g.69170094_69170101del	NCBI36
NG_009809.1:g.422459_422466del
NG_009809.2:g.422453_422460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.915_922del MANE Select	ENSP00000363680.4:p.Ser305ArgfsTer9
ENST00000374552.8:c.915_922del	ENSP00000363680.4:p.Ser305ArgfsTer9
ENST00000374553.6:c.915_918+4del
ENST00000524573.5:c.906_909+4del
ENST00000616899.1:c.519_526del	ENSP00000481963.1:p.Ser173ArgfsTer9
NM_001005609.1:c.915_918+4del
NM_001005612.2:c.906_909+4del
NM_001399.4:c.915_922del	NP_001390.1:p.Ser305ArgfsTer9
XM_006724630.2:c.906_913del	XP_006724693.1:p.Ser302ArgfsTer9
XM_011530885.1:c.915_918+4del
XM_011530885.2:c.915_918+4del
XM_017029336.1:c.882+33_882+40del	XP_016884825.1:n.882+33_882+40del
NM_001399.5:c.915_922del MANE Select	NP_001390.1:p.Ser305ArgfsTer9
NM_001005609.2:c.915_918+4del
NM_001005612.3:c.906_909+4del