Canonical Allele Identifier: CA1610829139

Gene: EDN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12294362_12294370delinsGAAAAATCA , CM000668.2:g.12294362_12294370delinsGAAAAATCA	GRCh38
NC_000006.11:g.12294595_12294603delinsGAAAAATCA , CM000668.1:g.12294595_12294603delinsGAAAAATCA	GRCh37
NC_000006.10:g.12402581_12402589delinsGAAAAATCA	NCBI36
NG_016196.1:g.9067_9075delinsGAAAAATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.491_499delinsGAAAAATCA MANE Select	ENSP00000368683.5:p.Arg164=
ENST00000379375.5:c.491_499delinsGAAAAATCA	ENSP00000368683.5:p.Arg164=
NM_001168319.1:c.488_496delinsGAAAAATCA	NP_001161791.1:p.Arg163=
NM_001955.4:c.491_499delinsGAAAAATCA	NP_001946.3:p.Arg164=
XM_011514330.1:c.491_499delinsGAAAAATCA	XP_011512632.1:p.Arg164=
XM_011514331.1:c.491_499delinsGAAAAATCA	XP_011512633.1:p.Arg164=
XM_011514332.1:c.488_496delinsGAAAAATCA	XP_011512634.1:p.Arg163=
XM_011514330.2:c.491_499delinsGAAAAATCA	XP_011512632.1:p.Arg164=
XM_011514331.3:c.491_499delinsGAAAAATCA	XP_011512633.1:p.Arg164=
XM_011514332.2:c.488_496delinsGAAAAATCA	XP_011512634.1:p.Arg163=
XM_017010331.1:c.491_499delinsGAAAAATCA	XP_016865820.1:p.Arg164=
NM_001955.5:c.491_499delinsGAAAAATCA MANE Select	NP_001946.3:p.Arg164=
NM_001168319.2:c.488_496delinsGAAAAATCA	NP_001161791.1:p.Arg163=