Canonical Allele Identifier: CA1610844287

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292581_12292584delinsTTTC , CM000668.2:g.12292581_12292584delinsTTTC	GRCh38
NC_000006.11:g.12292814_12292817delinsTTTC , CM000668.1:g.12292814_12292817delinsTTTC	GRCh37
NC_000006.10:g.12400800_12400803delinsTTTC	NCBI36
NG_016196.1:g.7286_7289delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.233+72_233+75delinsTTTC MANE Select	ENSP00000368683.5:n.233+72_233+75delinsTTTC
ENST00000379375.5:c.233+72_233+75delinsTTTC	ENSP00000368683.5:n.233+72_233+75delinsTTTC
NM_001168319.1:c.230+72_230+75delinsTTTC	NP_001161791.1:n.230+72_230+75delinsTTTC
NM_001955.4:c.233+72_233+75delinsTTTC	NP_001946.3:n.233+72_233+75delinsTTTC
XM_011514330.1:c.233+72_233+75delinsTTTC	XP_011512632.1:n.233+72_233+75delinsTTTC
XM_011514331.1:c.233+72_233+75delinsTTTC	XP_011512633.1:n.233+72_233+75delinsTTTC
XM_011514332.1:c.230+72_230+75delinsTTTC	XP_011512634.1:n.230+72_230+75delinsTTTC
XM_011514330.2:c.233+72_233+75delinsTTTC	XP_011512632.1:n.233+72_233+75delinsTTTC
XM_011514331.3:c.233+72_233+75delinsTTTC	XP_011512633.1:n.233+72_233+75delinsTTTC
XM_011514332.2:c.230+72_230+75delinsTTTC	XP_011512634.1:n.230+72_230+75delinsTTTC
XM_017010331.1:c.233+72_233+75delinsTTTC	XP_016865820.1:n.233+72_233+75delinsTTTC
NM_001955.5:c.233+72_233+75delinsTTTC MANE Select	NP_001946.3:n.233+72_233+75delinsTTTC
NM_001168319.2:c.230+72_230+75delinsTTTC	NP_001161791.1:n.230+72_230+75delinsTTTC