Canonical Allele Identifier: CA2986066424
Gene: EDN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295789_12295790del , CM000668.2:g.12295789_12295790del GRCh38
NC_000006.11:g.12296022_12296023del , CM000668.1:g.12296022_12296023del GRCh37
NC_000006.10:g.12404008_12404009del NCBI36
NG_016196.1:g.10494_10495del

Transcript Alleles

HGVS Amino-acid Change
NM_001955.5:c.534-173_534-172del MANE Select NP_001946.3:n.534-173_534-172del
ENST00000379375.6:c.534-173_534-172del MANE Select ENSP00000368683.5:n.534-173_534-172del
NM_001168319.1:c.531-173_531-172del NP_001161791.1:n.531-173_531-172del
NM_001168319.2:c.531-173_531-172del NP_001161791.1:n.531-173_531-172del
NM_001955.4:c.534-173_534-172del NP_001946.3:n.534-173_534-172del
ENST00000379375.5:c.534-173_534-172del ENSP00000368683.5:n.534-173_534-172del
XM_011514330.1:c.534-173_534-172del XP_011512632.1:n.534-173_534-172del
XM_011514330.2:c.534-173_534-172del XP_011512632.1:n.534-173_534-172del
XM_011514331.1:c.534-173_534-172del XP_011512633.1:n.534-173_534-172del
XM_011514331.3:c.534-173_534-172del XP_011512633.1:n.534-173_534-172del
XM_011514332.1:c.531-173_531-172del XP_011512634.1:n.531-173_531-172del
XM_011514332.2:c.531-173_531-172del XP_011512634.1:n.531-173_531-172del
XM_017010331.1:c.534-173_534-172del XP_016865820.1:n.534-173_534-172del