Canonical Allele Identifier: CA134216890

Gene: EDN1

Linked Data

• dbSNP Id: rs1051974102
• gnomAD v3: 6-12290421-TCCA-T
• gnomAD v4: 6-12290421-TCCA-T
• MyVariant Identifiers: chr6:g.12290655_12290657del (hg19) ; chr6:g.12290422_12290424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290424_12290426del , CM000668.2:g.12290424_12290426del	GRCh38
NC_000006.11:g.12290657_12290659del , CM000668.1:g.12290657_12290659del	GRCh37
NC_000006.10:g.12398643_12398645del	NCBI36
NG_016196.1:g.5129_5131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-206_-204del MANE Select	ENSP00000368683.5:n.-206_-204del
ENST00000379375.5:c.-206_-204del	ENSP00000368683.5:n.-206_-204del
NM_001168319.1:c.-206_-204del	NP_001161791.1:n.-206_-204del
NM_001955.4:c.-206_-204del	NP_001946.3:n.-206_-204del
XM_011514330.1:c.-1-205_-1-203del	XP_011512632.1:n.-1-205_-1-203del
XM_011514331.1:c.-1-205_-1-203del	XP_011512633.1:n.-1-205_-1-203del
XM_011514332.1:c.-1-205_-1-203del	XP_011512634.1:n.-1-205_-1-203del
XM_011514330.2:c.-1-205_-1-203del	XP_011512632.1:n.-1-205_-1-203del
XM_011514331.3:c.-1-205_-1-203del	XP_011512633.1:n.-1-205_-1-203del
XM_011514332.2:c.-1-205_-1-203del	XP_011512634.1:n.-1-205_-1-203del
XM_017010331.1:c.-1-205_-1-203del	XP_016865820.1:n.-1-205_-1-203del
NM_001955.5:c.-206_-204del MANE Select	NP_001946.3:n.-206_-204del
NM_001168319.2:c.-206_-204del	NP_001161791.1:n.-206_-204del