Canonical Allele Identifier: CA1610831008
Gene: EDN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12296053del , CM000668.2:g.12296053del GRCh38
NC_000006.11:g.12296286del , CM000668.1:g.12296286del GRCh37
NC_000006.10:g.12404272del NCBI36
NG_016196.1:g.10758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379375.6:c.625del MANE Select ENSP00000368683.5:p.Arg209GlufsTer12
ENST00000379375.5:c.625del ENSP00000368683.5:p.Arg209GlufsTer12
NM_001168319.1:c.622del NP_001161791.1:p.Arg208GlufsTer12
NM_001955.4:c.625del NP_001946.3:p.Arg209GlufsTer12
XM_011514330.1:c.625del XP_011512632.1:p.Arg209GlufsTer12
XM_011514331.1:c.625del XP_011512633.1:p.Arg209GlufsTer12
XM_011514332.1:c.622del XP_011512634.1:p.Arg208GlufsTer12
XM_011514330.2:c.625del XP_011512632.1:p.Arg209GlufsTer12
XM_011514331.3:c.625del XP_011512633.1:p.Arg209GlufsTer12
XM_011514332.2:c.622del XP_011512634.1:p.Arg208GlufsTer12
XM_017010331.1:c.625del XP_016865820.1:p.Arg209GlufsTer12
NM_001955.5:c.625del MANE Select NP_001946.3:p.Arg209GlufsTer12
NM_001168319.2:c.622del NP_001161791.1:p.Arg208GlufsTer12