Canonical Allele Identifier: CA2770023741

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292508del , CM000668.2:g.12292508del	GRCh38
NC_000006.11:g.12292741del , CM000668.1:g.12292741del	GRCh37
NC_000006.10:g.12400727del	NCBI36
NG_016196.1:g.7213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.232del MANE Select	ENSP00000368683.5:p.Glu78SerfsTer?
ENST00000379375.5:c.232del	ENSP00000368683.5:p.Glu78SerfsTer?
NM_001168319.1:c.229del	NP_001161791.1:p.Glu77SerfsTer?
NM_001955.4:c.232del	NP_001946.3:p.Glu78SerfsTer?
XM_011514330.1:c.232del	XP_011512632.1:p.Glu78SerfsTer?
XM_011514331.1:c.232del	XP_011512633.1:p.Glu78SerfsTer?
XM_011514332.1:c.229del	XP_011512634.1:p.Glu77SerfsTer?
XM_011514330.2:c.232del	XP_011512632.1:p.Glu78SerfsTer?
XM_011514331.3:c.232del	XP_011512633.1:p.Glu78SerfsTer?
XM_011514332.2:c.229del	XP_011512634.1:p.Glu77SerfsTer?
XM_017010331.1:c.232del	XP_016865820.1:p.Glu78SerfsTer?
NM_001955.5:c.232del MANE Select	NP_001946.3:p.Glu78SerfsTer?
NM_001168319.2:c.229del	NP_001161791.1:p.Glu77SerfsTer?