Canonical Allele Identifier: CA2677349601

Gene: EDN1

Linked Data

• gnomAD v4: 6-12290368-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290371_12290372dup , CM000668.2:g.12290371_12290372dup	GRCh38
NC_000006.11:g.12290604_12290605dup , CM000668.1:g.12290604_12290605dup	GRCh37
NC_000006.10:g.12398590_12398591dup	NCBI36
NG_016196.1:g.5076_5077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-259_-258dup MANE Select	ENSP00000368683.5:n.-259_-258dup
ENST00000379375.5:c.-259_-258dup	ENSP00000368683.5:n.-259_-258dup
NM_001168319.1:c.-259_-258dup	NP_001161791.1:n.-259_-258dup
NM_001955.4:c.-259_-258dup	NP_001946.3:n.-259_-258dup
XM_011514330.1:c.-1-258_-1-257dup	XP_011512632.1:n.-1-258_-1-257dup
XM_011514331.1:c.-1-258_-1-257dup	XP_011512633.1:n.-1-258_-1-257dup
XM_011514332.1:c.-1-258_-1-257dup	XP_011512634.1:n.-1-258_-1-257dup
XM_011514330.2:c.-1-258_-1-257dup	XP_011512632.1:n.-1-258_-1-257dup
XM_011514331.3:c.-1-258_-1-257dup	XP_011512633.1:n.-1-258_-1-257dup
XM_011514332.2:c.-1-258_-1-257dup	XP_011512634.1:n.-1-258_-1-257dup
XM_017010331.1:c.-2+248_-2+249dup	XP_016865820.1:n.-2+248_-2+249dup
NM_001955.5:c.-259_-258dup MANE Select	NP_001946.3:n.-259_-258dup
NM_001168319.2:c.-259_-258dup	NP_001161791.1:n.-259_-258dup