Canonical Allele Identifier: CA3638777
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs753442762

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12296051_12296060del , CM000668.2:g.12296051_12296060del GRCh38
NC_000006.11:g.12296284_12296293del , CM000668.1:g.12296284_12296293del GRCh37
NC_000006.10:g.12404270_12404279del NCBI36
NG_016196.1:g.10756_10765del

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.623_632del MANE Select ENSP00000368683.5:p.Asn208IlefsTer10
ENST00000379375.5:c.623_632del ENSP00000368683.5:p.Asn208IlefsTer10
NM_001168319.1:c.620_629del NP_001161791.1:p.Asn207IlefsTer10
NM_001955.4:c.623_632del NP_001946.3:p.Asn208IlefsTer10
XM_011514330.1:c.623_632del XP_011512632.1:p.Asn208IlefsTer10
XM_011514331.1:c.623_632del XP_011512633.1:p.Asn208IlefsTer10
XM_011514332.1:c.620_629del XP_011512634.1:p.Asn207IlefsTer10
XM_011514330.2:c.623_632del XP_011512632.1:p.Asn208IlefsTer10
XM_011514331.3:c.623_632del XP_011512633.1:p.Asn208IlefsTer10
XM_011514332.2:c.620_629del XP_011512634.1:p.Asn207IlefsTer10
XM_017010331.1:c.623_632del XP_016865820.1:p.Asn208IlefsTer10
NM_001955.5:c.623_632del MANE Select NP_001946.3:p.Asn208IlefsTer10
NM_001168319.2:c.620_629del NP_001161791.1:p.Asn207IlefsTer10