Canonical Allele Identifier: CA565606433

Gene: EDN1

Linked Data

• dbSNP Id: rs1267292631
• gnomAD v2: 6-12290747-AAG-A
• gnomAD v3: 6-12290514-AAG-A
• gnomAD v4: 6-12290514-AAG-A
• MyVariant Identifiers: chr6:g.12290748_12290749del (hg19) ; chr6:g.12290515_12290516del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290515_12290516del , CM000668.2:g.12290515_12290516del	GRCh38
NC_000006.11:g.12290748_12290749del , CM000668.1:g.12290748_12290749del	GRCh37
NC_000006.10:g.12398734_12398735del	NCBI36
NG_016196.1:g.5220_5221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-115_-114del MANE Select	ENSP00000368683.5:n.-115_-114del
ENST00000379375.5:c.-115_-114del	ENSP00000368683.5:n.-115_-114del
NM_001168319.1:c.-115_-114del	NP_001161791.1:n.-115_-114del
NM_001955.4:c.-115_-114del	NP_001946.3:n.-115_-114del
XM_011514330.1:c.-1-114_-1-113del	XP_011512632.1:n.-1-114_-1-113del
XM_011514331.1:c.-1-114_-1-113del	XP_011512633.1:n.-1-114_-1-113del
XM_011514332.1:c.-1-114_-1-113del	XP_011512634.1:n.-1-114_-1-113del
XM_011514330.2:c.-1-114_-1-113del	XP_011512632.1:n.-1-114_-1-113del
XM_011514331.3:c.-1-114_-1-113del	XP_011512633.1:n.-1-114_-1-113del
XM_011514332.2:c.-1-114_-1-113del	XP_011512634.1:n.-1-114_-1-113del
XM_017010331.1:c.-1-114_-1-113del	XP_016865820.1:n.-1-114_-1-113del
NM_001955.5:c.-115_-114del MANE Select	NP_001946.3:n.-115_-114del
NM_001168319.2:c.-115_-114del	NP_001161791.1:n.-115_-114del