Canonical Allele Identifier: CA2986066505

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296051dup , CM000668.2:g.12296051dup	GRCh38
NC_000006.11:g.12296284dup , CM000668.1:g.12296284dup	GRCh37
NC_000006.10:g.12404270dup	NCBI36
NG_016196.1:g.10756dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.623dup MANE Select	ENSP00000368683.5:p.Asn208LysfsTer?
ENST00000379375.5:c.623dup	ENSP00000368683.5:p.Asn208LysfsTer?
NM_001168319.1:c.620dup	NP_001161791.1:p.Asn207LysfsTer?
NM_001955.4:c.623dup	NP_001946.3:p.Asn208LysfsTer?
XM_011514330.1:c.623dup	XP_011512632.1:p.Asn208LysfsTer?
XM_011514331.1:c.623dup	XP_011512633.1:p.Asn208LysfsTer?
XM_011514332.1:c.620dup	XP_011512634.1:p.Asn207LysfsTer?
XM_011514330.2:c.623dup	XP_011512632.1:p.Asn208LysfsTer?
XM_011514331.3:c.623dup	XP_011512633.1:p.Asn208LysfsTer?
XM_011514332.2:c.620dup	XP_011512634.1:p.Asn207LysfsTer?
XM_017010331.1:c.623dup	XP_016865820.1:p.Asn208LysfsTer?
NM_001955.5:c.623dup MANE Select	NP_001946.3:p.Asn208LysfsTer?
NM_001168319.2:c.620dup	NP_001161791.1:p.Asn207LysfsTer?