Canonical Allele Identifier: CA2770023614

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290510del , CM000668.2:g.12290510del	GRCh38
NC_000006.11:g.12290743del , CM000668.1:g.12290743del	GRCh37
NC_000006.10:g.12398729del	NCBI36
NG_016196.1:g.5215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-120del MANE Select	ENSP00000368683.5:n.-120del
ENST00000379375.5:c.-120del	ENSP00000368683.5:n.-120del
NM_001168319.1:c.-120del	NP_001161791.1:n.-120del
NM_001955.4:c.-120del	NP_001946.3:n.-120del
XM_011514330.1:c.-1-119del	XP_011512632.1:n.-1-119del
XM_011514331.1:c.-1-119del	XP_011512633.1:n.-1-119del
XM_011514332.1:c.-1-119del	XP_011512634.1:n.-1-119del
XM_011514330.2:c.-1-119del	XP_011512632.1:n.-1-119del
XM_011514331.3:c.-1-119del	XP_011512633.1:n.-1-119del
XM_011514332.2:c.-1-119del	XP_011512634.1:n.-1-119del
XM_017010331.1:c.-1-119del	XP_016865820.1:n.-1-119del
NM_001955.5:c.-120del MANE Select	NP_001946.3:n.-120del
NM_001168319.2:c.-120del	NP_001161791.1:n.-120del