Canonical Allele Identifier: CA2677349927

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292204-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292208_12292209del , CM000668.2:g.12292208_12292209del	GRCh38
NC_000006.11:g.12292441_12292442del , CM000668.1:g.12292441_12292442del	GRCh37
NC_000006.10:g.12400427_12400428del	NCBI36
NG_016196.1:g.6913_6914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.65-133_65-132del MANE Select	ENSP00000368683.5:n.65-133_65-132del
ENST00000379375.5:c.65-133_65-132del	ENSP00000368683.5:n.65-133_65-132del
NM_001168319.1:c.65-136_65-135del	NP_001161791.1:n.65-136_65-135del
NM_001955.4:c.65-133_65-132del	NP_001946.3:n.65-133_65-132del
XM_011514330.1:c.65-133_65-132del	XP_011512632.1:n.65-133_65-132del
XM_011514331.1:c.65-133_65-132del	XP_011512633.1:n.65-133_65-132del
XM_011514332.1:c.65-136_65-135del	XP_011512634.1:n.65-136_65-135del
XM_011514330.2:c.65-133_65-132del	XP_011512632.1:n.65-133_65-132del
XM_011514331.3:c.65-133_65-132del	XP_011512633.1:n.65-133_65-132del
XM_011514332.2:c.65-136_65-135del	XP_011512634.1:n.65-136_65-135del
XM_017010331.1:c.65-133_65-132del	XP_016865820.1:n.65-133_65-132del
NM_001955.5:c.65-133_65-132del MANE Select	NP_001946.3:n.65-133_65-132del
NM_001168319.2:c.65-136_65-135del	NP_001161791.1:n.65-136_65-135del