Canonical Allele Identifier: CA1610843912

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292459_12292463delinsAGAGT , CM000668.2:g.12292459_12292463delinsAGAGT	GRCh38
NC_000006.11:g.12292692_12292696delinsAGAGT , CM000668.1:g.12292692_12292696delinsAGAGT	GRCh37
NC_000006.10:g.12400678_12400682delinsAGAGT	NCBI36
NG_016196.1:g.7164_7168delinsAGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.183_187delinsAGAGT MANE Select	ENSP00000368683.5:p.Lys61=
ENST00000379375.5:c.183_187delinsAGAGT	ENSP00000368683.5:p.Lys61=
NM_001168319.1:c.180_184delinsAGAGT	NP_001161791.1:p.Lys60=
NM_001955.4:c.183_187delinsAGAGT	NP_001946.3:p.Lys61=
XM_011514330.1:c.183_187delinsAGAGT	XP_011512632.1:p.Lys61=
XM_011514331.1:c.183_187delinsAGAGT	XP_011512633.1:p.Lys61=
XM_011514332.1:c.180_184delinsAGAGT	XP_011512634.1:p.Lys60=
XM_011514330.2:c.183_187delinsAGAGT	XP_011512632.1:p.Lys61=
XM_011514331.3:c.183_187delinsAGAGT	XP_011512633.1:p.Lys61=
XM_011514332.2:c.180_184delinsAGAGT	XP_011512634.1:p.Lys60=
XM_017010331.1:c.183_187delinsAGAGT	XP_016865820.1:p.Lys61=
NM_001955.5:c.183_187delinsAGAGT MANE Select	NP_001946.3:p.Lys61=
NM_001168319.2:c.180_184delinsAGAGT	NP_001161791.1:p.Lys60=