Canonical Allele Identifier: CA565609779

Gene: EDN1

Linked Data

• dbSNP Id: rs1328245529
• gnomAD v2: 6:12296261 C / CA
• MyVariant Identifiers: chr6:g.12296261_12296262insA (hg19) ; chr6:g.12296028_12296029insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296029dup , CM000668.2:g.12296029dup	GRCh38
NC_000006.11:g.12296262dup , CM000668.1:g.12296262dup	GRCh37
NC_000006.10:g.12404248dup	NCBI36
NG_016196.1:g.10734dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.601dup MANE Select	ENSP00000368683.5:p.Arg201LysfsTer?
ENST00000379375.5:c.601dup	ENSP00000368683.5:p.Arg201LysfsTer?
NM_001168319.1:c.598dup	NP_001161791.1:p.Arg200LysfsTer?
NM_001955.4:c.601dup	NP_001946.3:p.Arg201LysfsTer?
XM_011514330.1:c.601dup	XP_011512632.1:p.Arg201LysfsTer?
XM_011514331.1:c.601dup	XP_011512633.1:p.Arg201LysfsTer?
XM_011514332.1:c.598dup	XP_011512634.1:p.Arg200LysfsTer?
XM_011514330.2:c.601dup	XP_011512632.1:p.Arg201LysfsTer?
XM_011514331.3:c.601dup	XP_011512633.1:p.Arg201LysfsTer?
XM_011514332.2:c.598dup	XP_011512634.1:p.Arg200LysfsTer?
XM_017010331.1:c.601dup	XP_016865820.1:p.Arg201LysfsTer?
NM_001955.5:c.601dup MANE Select	NP_001946.3:p.Arg201LysfsTer?
NM_001168319.2:c.598dup	NP_001161791.1:p.Arg200LysfsTer?