Canonical Allele Identifier: CA2677349704

Gene: EDN1

Linked Data

• gnomAD v4: 6-12290463-C-CTCTCCTGGCAGGCGCTGCCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290469_12290490dup , CM000668.2:g.12290469_12290490dup	GRCh38
NC_000006.11:g.12290702_12290723dup , CM000668.1:g.12290702_12290723dup	GRCh37
NC_000006.10:g.12398688_12398709dup	NCBI36
NG_016196.1:g.5174_5195dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-161_-140dup MANE Select	ENSP00000368683.5:n.-161_-140dup
ENST00000379375.5:c.-161_-140dup	ENSP00000368683.5:n.-161_-140dup
NM_001168319.1:c.-161_-140dup	NP_001161791.1:n.-161_-140dup
NM_001955.4:c.-161_-140dup	NP_001946.3:n.-161_-140dup
XM_011514330.1:c.-1-160_-1-139dup	XP_011512632.1:n.-1-160_-1-139dup
XM_011514331.1:c.-1-160_-1-139dup	XP_011512633.1:n.-1-160_-1-139dup
XM_011514332.1:c.-1-160_-1-139dup	XP_011512634.1:n.-1-160_-1-139dup
XM_011514330.2:c.-1-160_-1-139dup	XP_011512632.1:n.-1-160_-1-139dup
XM_011514331.3:c.-1-160_-1-139dup	XP_011512633.1:n.-1-160_-1-139dup
XM_011514332.2:c.-1-160_-1-139dup	XP_011512634.1:n.-1-160_-1-139dup
XM_017010331.1:c.-1-160_-1-139dup	XP_016865820.1:n.-1-160_-1-139dup
NM_001955.5:c.-161_-140dup MANE Select	NP_001946.3:n.-161_-140dup
NM_001168319.2:c.-161_-140dup	NP_001161791.1:n.-161_-140dup