Canonical Allele Identifier: CA2677350013

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292572-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292576del , CM000668.2:g.12292576del	GRCh38
NC_000006.11:g.12292809del , CM000668.1:g.12292809del	GRCh37
NC_000006.10:g.12400795del	NCBI36
NG_016196.1:g.7281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.233+67del MANE Select	ENSP00000368683.5:n.233+67del
ENST00000379375.5:c.233+67del	ENSP00000368683.5:n.233+67del
NM_001168319.1:c.230+67del	NP_001161791.1:n.230+67del
NM_001955.4:c.233+67del	NP_001946.3:n.233+67del
XM_011514330.1:c.233+67del	XP_011512632.1:n.233+67del
XM_011514331.1:c.233+67del	XP_011512633.1:n.233+67del
XM_011514332.1:c.230+67del	XP_011512634.1:n.230+67del
XM_011514330.2:c.233+67del	XP_011512632.1:n.233+67del
XM_011514331.3:c.233+67del	XP_011512633.1:n.233+67del
XM_011514332.2:c.230+67del	XP_011512634.1:n.230+67del
XM_017010331.1:c.233+67del	XP_016865820.1:n.233+67del
NM_001955.5:c.233+67del MANE Select	NP_001946.3:n.233+67del
NM_001168319.2:c.230+67del	NP_001161791.1:n.230+67del