Canonical Allele Identifier: CA2677349765

Gene: EDN1

Linked Data

• gnomAD v4: 6-12290507-T-TTCTCCCCGTTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290507_12290508insTCTCCCCGTTAAA , CM000668.2:g.12290507_12290508insTCTCCCCGTTAAA	GRCh38
NC_000006.11:g.12290740_12290741insTCTCCCCGTTAAA , CM000668.1:g.12290740_12290741insTCTCCCCGTTAAA	GRCh37
NC_000006.10:g.12398726_12398727insTCTCCCCGTTAAA	NCBI36
NG_016196.1:g.5212_5213insTCTCCCCGTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-123_-122insTCTCCCCGTTAAA MANE Select	ENSP00000368683.5:n.-123_-122insTCTCCCCGTTAAA
ENST00000379375.5:c.-123_-122insTCTCCCCGTTAAA	ENSP00000368683.5:n.-123_-122insTCTCCCCGTTAAA
NM_001168319.1:c.-123_-122insTCTCCCCGTTAAA	NP_001161791.1:n.-123_-122insTCTCCCCGTTAAA
NM_001955.4:c.-123_-122insTCTCCCCGTTAAA	NP_001946.3:n.-123_-122insTCTCCCCGTTAAA
XM_011514330.1:c.-1-122_-1-121insTCTCCCCGTTAAA	XP_011512632.1:n.-1-122_-1-121insTCTCCCCGTTAAA
XM_011514331.1:c.-1-122_-1-121insTCTCCCCGTTAAA	XP_011512633.1:n.-1-122_-1-121insTCTCCCCGTTAAA
XM_011514332.1:c.-1-122_-1-121insTCTCCCCGTTAAA	XP_011512634.1:n.-1-122_-1-121insTCTCCCCGTTAAA
XM_011514330.2:c.-1-122_-1-121insTCTCCCCGTTAAA	XP_011512632.1:n.-1-122_-1-121insTCTCCCCGTTAAA
XM_011514331.3:c.-1-122_-1-121insTCTCCCCGTTAAA	XP_011512633.1:n.-1-122_-1-121insTCTCCCCGTTAAA
XM_011514332.2:c.-1-122_-1-121insTCTCCCCGTTAAA	XP_011512634.1:n.-1-122_-1-121insTCTCCCCGTTAAA
XM_017010331.1:c.-1-122_-1-121insTCTCCCCGTTAAA	XP_016865820.1:n.-1-122_-1-121insTCTCCCCGTTAAA
NM_001955.5:c.-123_-122insTCTCCCCGTTAAA MANE Select	NP_001946.3:n.-123_-122insTCTCCCCGTTAAA
NM_001168319.2:c.-123_-122insTCTCCCCGTTAAA	NP_001161791.1:n.-123_-122insTCTCCCCGTTAAA