Canonical Allele Identifier: CA2578531343

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296048_12296053dup , CM000668.2:g.12296048_12296053dup	GRCh38
NC_000006.11:g.12296281_12296286dup , CM000668.1:g.12296281_12296286dup	GRCh37
NC_000006.10:g.12404267_12404272dup	NCBI36
NG_016196.1:g.10753_10758dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.620_625dup MANE Select	ENSP00000368683.5:p.Asn208_Arg209insHisAs...
ENST00000379375.5:c.620_625dup	ENSP00000368683.5:p.Asn208_Arg209insHisAs...
NM_001168319.1:c.617_622dup	NP_001161791.1:p.Asn207_Arg208insHisAsn
NM_001955.4:c.620_625dup	NP_001946.3:p.Asn208_Arg209insHisAsn
XM_011514330.1:c.620_625dup	XP_011512632.1:p.Asn208_Arg209insHisAsn
XM_011514331.1:c.620_625dup	XP_011512633.1:p.Asn208_Arg209insHisAsn
XM_011514332.1:c.617_622dup	XP_011512634.1:p.Asn207_Arg208insHisAsn
XM_011514330.2:c.620_625dup	XP_011512632.1:p.Asn208_Arg209insHisAsn
XM_011514331.3:c.620_625dup	XP_011512633.1:p.Asn208_Arg209insHisAsn
XM_011514332.2:c.617_622dup	XP_011512634.1:p.Asn207_Arg208insHisAsn
XM_017010331.1:c.620_625dup	XP_016865820.1:p.Asn208_Arg209insHisAsn
NM_001955.5:c.620_625dup MANE Select	NP_001946.3:p.Asn208_Arg209insHisAsn
NM_001168319.2:c.617_622dup	NP_001161791.1:p.Asn207_Arg208insHisAsn