Canonical Allele Identifier: CA2830782855

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70028003_70028006delinsTCTT , CM000685.2:g.70028003_70028006delinsTCTT	GRCh38
NC_000023.10:g.69247853_69247856delinsTCTT , CM000685.1:g.69247853_69247856delinsTCTT	GRCh37
NC_000023.9:g.69164578_69164581delinsTCTT	NCBI36
NG_009809.1:g.416943_416946delinsTCTT
NG_009809.2:g.416937_416940delinsTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.673_676delinsTCTT MANE Select	ENSP00000363680.4:p.Pro225SerfsTer2
ENST00000374552.8:c.673_676delinsTCTT	ENSP00000363680.4:p.Pro225SerfsTer2
ENST00000374553.6:c.673_676delinsTCTT	ENSP00000363681.2:p.Pro225SerfsTer2
ENST00000503592.5:c.277_280delinsTCTT	ENSP00000423037.1:p.Pro93SerfsTer2
ENST00000524573.5:c.673_676delinsTCTT	ENSP00000432585.1:p.Pro225SerfsTer2
ENST00000616899.1:c.277_280delinsTCTT	ENSP00000481963.1:p.Pro93SerfsTer2
NM_001005609.1:c.673_676delinsTCTT	NP_001005609.1:p.Pro225SerfsTer2
NM_001005612.2:c.673_676delinsTCTT	NP_001005612.2:p.Pro225SerfsTer2
NM_001399.4:c.673_676delinsTCTT	NP_001390.1:p.Pro225SerfsTer2
XM_006724630.2:c.673_676delinsTCTT	XP_006724693.1:p.Pro225SerfsTer2
XM_011530885.1:c.673_676delinsTCTT	XP_011529187.1:p.Pro225SerfsTer2
XM_011530885.2:c.673_676delinsTCTT	XP_011529187.1:p.Pro225SerfsTer2
XM_017029336.1:c.673_676delinsTCTT	XP_016884825.1:p.Pro225SerfsTer2
NM_001399.5:c.673_676delinsTCTT MANE Select	NP_001390.1:p.Pro225SerfsTer2
NM_001005609.2:c.673_676delinsTCTT	NP_001005609.1:p.Pro225SerfsTer2
NM_001005612.3:c.673_676delinsTCTT	NP_001005612.2:p.Pro225SerfsTer2