Canonical Allele Identifier: CA2677350377

Gene: EDN1

Linked Data

• gnomAD v4: 6-12295978-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12295980_12295981del , CM000668.2:g.12295980_12295981del	GRCh38
NC_000006.11:g.12296213_12296214del , CM000668.1:g.12296213_12296214del	GRCh37
NC_000006.10:g.12404199_12404200del	NCBI36
NG_016196.1:g.10685_10686del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.552_553del MANE Select	ENSP00000368683.5:p.Asn184LysfsTer8
ENST00000379375.5:c.552_553del	ENSP00000368683.5:p.Asn184LysfsTer8
NM_001168319.1:c.549_550del	NP_001161791.1:p.Asn183LysfsTer8
NM_001955.4:c.552_553del	NP_001946.3:p.Asn184LysfsTer8
XM_011514330.1:c.552_553del	XP_011512632.1:p.Asn184LysfsTer8
XM_011514331.1:c.552_553del	XP_011512633.1:p.Asn184LysfsTer8
XM_011514332.1:c.549_550del	XP_011512634.1:p.Asn183LysfsTer8
XM_011514330.2:c.552_553del	XP_011512632.1:p.Asn184LysfsTer8
XM_011514331.3:c.552_553del	XP_011512633.1:p.Asn184LysfsTer8
XM_011514332.2:c.549_550del	XP_011512634.1:p.Asn183LysfsTer8
XM_017010331.1:c.552_553del	XP_016865820.1:p.Asn184LysfsTer8
NM_001955.5:c.552_553del MANE Select	NP_001946.3:p.Asn184LysfsTer8
NM_001168319.2:c.549_550del	NP_001161791.1:p.Asn183LysfsTer8