Canonical Allele Identifier: CA2677350313

Gene: EDN1

Linked Data

• gnomAD v4: 6-12295850-T-TCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12295851_12295852insTGGC , CM000668.2:g.12295851_12295852insTGGC	GRCh38
NC_000006.11:g.12296084_12296085insTGGC , CM000668.1:g.12296084_12296085insTGGC	GRCh37
NC_000006.10:g.12404070_12404071insTGGC	NCBI36
NG_016196.1:g.10556_10557insTGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.534-111_534-110insTGGC MANE Select	ENSP00000368683.5:n.534-111_534-110insTGG...
ENST00000379375.5:c.534-111_534-110insTGGC	ENSP00000368683.5:n.534-111_534-110insTGG...
NM_001168319.1:c.531-111_531-110insTGGC	NP_001161791.1:n.531-111_531-110insTGGC
NM_001955.4:c.534-111_534-110insTGGC	NP_001946.3:n.534-111_534-110insTGGC
XM_011514330.1:c.534-111_534-110insTGGC	XP_011512632.1:n.534-111_534-110insTGGC
XM_011514331.1:c.534-111_534-110insTGGC	XP_011512633.1:n.534-111_534-110insTGGC
XM_011514332.1:c.531-111_531-110insTGGC	XP_011512634.1:n.531-111_531-110insTGGC
XM_011514330.2:c.534-111_534-110insTGGC	XP_011512632.1:n.534-111_534-110insTGGC
XM_011514331.3:c.534-111_534-110insTGGC	XP_011512633.1:n.534-111_534-110insTGGC
XM_011514332.2:c.531-111_531-110insTGGC	XP_011512634.1:n.531-111_531-110insTGGC
XM_017010331.1:c.534-111_534-110insTGGC	XP_016865820.1:n.534-111_534-110insTGGC
NM_001955.5:c.534-111_534-110insTGGC MANE Select	NP_001946.3:n.534-111_534-110insTGGC
NM_001168319.2:c.531-111_531-110insTGGC	NP_001161791.1:n.531-111_531-110insTGGC