Canonical Allele Identifier: CA2770023940

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296038del , CM000668.2:g.12296038del	GRCh38
NC_000006.11:g.12296271del , CM000668.1:g.12296271del	GRCh37
NC_000006.10:g.12404257del	NCBI36
NG_016196.1:g.10743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.610del MANE Select	ENSP00000368683.5:p.Tyr204MetfsTer2
ENST00000379375.5:c.610del	ENSP00000368683.5:p.Tyr204MetfsTer2
NM_001168319.1:c.607del	NP_001161791.1:p.Tyr203MetfsTer2
NM_001955.4:c.610del	NP_001946.3:p.Tyr204MetfsTer2
XM_011514330.1:c.610del	XP_011512632.1:p.Tyr204MetfsTer2
XM_011514331.1:c.610del	XP_011512633.1:p.Tyr204MetfsTer2
XM_011514332.1:c.607del	XP_011512634.1:p.Tyr203MetfsTer2
XM_011514330.2:c.610del	XP_011512632.1:p.Tyr204MetfsTer2
XM_011514331.3:c.610del	XP_011512633.1:p.Tyr204MetfsTer2
XM_011514332.2:c.607del	XP_011512634.1:p.Tyr203MetfsTer2
XM_017010331.1:c.610del	XP_016865820.1:p.Tyr204MetfsTer2
NM_001955.5:c.610del MANE Select	NP_001946.3:p.Tyr204MetfsTer2
NM_001168319.2:c.607del	NP_001161791.1:p.Tyr203MetfsTer2