Canonical Allele Identifier: CA1086089906

Gene: EDN1

Linked Data

• gnomAD v3: 6-12290861-A-ACGCTT
• gnomAD v4: 6-12290861-A-ACGCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290861_12290862insCGCTT , CM000668.2:g.12290861_12290862insCGCTT	GRCh38
NC_000006.11:g.12291094_12291095insCGCTT , CM000668.1:g.12291094_12291095insCGCTT	GRCh37
NC_000006.10:g.12399080_12399081insCGCTT	NCBI36
NG_016196.1:g.5566_5567insCGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.64+168_64+169insCGCTT MANE Select	ENSP00000368683.5:n.64+168_64+169insCGCTT
ENST00000379375.5:c.64+168_64+169insCGCTT	ENSP00000368683.5:n.64+168_64+169insCGCTT
NM_001168319.1:c.64+168_64+169insCGCTT	NP_001161791.1:n.64+168_64+169insCGCTT
NM_001955.4:c.64+168_64+169insCGCTT	NP_001946.3:n.64+168_64+169insCGCTT
XM_011514330.1:c.64+168_64+169insCGCTT	XP_011512632.1:n.64+168_64+169insCGCTT
XM_011514331.1:c.64+168_64+169insCGCTT	XP_011512633.1:n.64+168_64+169insCGCTT
XM_011514332.1:c.64+168_64+169insCGCTT	XP_011512634.1:n.64+168_64+169insCGCTT
XM_011514330.2:c.64+168_64+169insCGCTT	XP_011512632.1:n.64+168_64+169insCGCTT
XM_011514331.3:c.64+168_64+169insCGCTT	XP_011512633.1:n.64+168_64+169insCGCTT
XM_011514332.2:c.64+168_64+169insCGCTT	XP_011512634.1:n.64+168_64+169insCGCTT
XM_017010331.1:c.64+168_64+169insCGCTT	XP_016865820.1:n.64+168_64+169insCGCTT
NM_001955.5:c.64+168_64+169insCGCTT MANE Select	NP_001946.3:n.64+168_64+169insCGCTT
NM_001168319.2:c.64+168_64+169insCGCTT	NP_001161791.1:n.64+168_64+169insCGCTT