Canonical Allele Identifier: CA2677349988

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292456-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292458_12292459dup , CM000668.2:g.12292458_12292459dup	GRCh38
NC_000006.11:g.12292691_12292692dup , CM000668.1:g.12292691_12292692dup	GRCh37
NC_000006.10:g.12400677_12400678dup	NCBI36
NG_016196.1:g.7163_7164dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.182_183dup MANE Select	ENSP00000368683.5:p.Glu62LysfsTer?
ENST00000379375.5:c.182_183dup	ENSP00000368683.5:p.Glu62LysfsTer?
NM_001168319.1:c.179_180dup	NP_001161791.1:p.Glu61LysfsTer?
NM_001955.4:c.182_183dup	NP_001946.3:p.Glu62LysfsTer?
XM_011514330.1:c.182_183dup	XP_011512632.1:p.Glu62LysfsTer?
XM_011514331.1:c.182_183dup	XP_011512633.1:p.Glu62LysfsTer?
XM_011514332.1:c.179_180dup	XP_011512634.1:p.Glu61LysfsTer?
XM_011514330.2:c.182_183dup	XP_011512632.1:p.Glu62LysfsTer?
XM_011514331.3:c.182_183dup	XP_011512633.1:p.Glu62LysfsTer?
XM_011514332.2:c.179_180dup	XP_011512634.1:p.Glu61LysfsTer?
XM_017010331.1:c.182_183dup	XP_016865820.1:p.Glu62LysfsTer?
NM_001955.5:c.182_183dup MANE Select	NP_001946.3:p.Glu62LysfsTer?
NM_001168319.2:c.179_180dup	NP_001161791.1:p.Glu61LysfsTer?