Canonical Allele Identifier: CA1610831438

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296493_12296494delinsAG , CM000668.2:g.12296493_12296494delinsAG	GRCh38
NC_000006.11:g.12296726_12296727delinsAG , CM000668.1:g.12296726_12296727delinsAG	GRCh37
NC_000006.10:g.12404712_12404713delinsAG	NCBI36
NG_016196.1:g.11198_11199delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.*426_*427delinsAG MANE Select	ENSP00000368683.5:n.*426_*427delinsAG
ENST00000379375.5:c.*426_*427delinsAG	ENSP00000368683.5:n.*426_*427delinsAG
NM_001168319.1:c.*426_*427delinsAG	NP_001161791.1:n.*426_*427delinsAG
NM_001955.4:c.*426_*427delinsAG	NP_001946.3:n.*426_*427delinsAG
XM_011514330.1:c.*426_*427delinsAG	XP_011512632.1:n.*426_*427delinsAG
XM_011514331.1:c.*426_*427delinsAG	XP_011512633.1:n.*426_*427delinsAG
XM_011514332.1:c.*426_*427delinsAG	XP_011512634.1:n.*426_*427delinsAG
XM_011514330.2:c.*426_*427delinsAG	XP_011512632.1:n.*426_*427delinsAG
XM_011514331.3:c.*426_*427delinsAG	XP_011512633.1:n.*426_*427delinsAG
XM_011514332.2:c.*426_*427delinsAG	XP_011512634.1:n.*426_*427delinsAG
XM_017010331.1:c.*426_*427delinsAG	XP_016865820.1:n.*426_*427delinsAG
NM_001955.5:c.*426_*427delinsAG MANE Select	NP_001946.3:n.*426_*427delinsAG
NM_001168319.2:c.*426_*427delinsAG	NP_001161791.1:n.*426_*427delinsAG