Canonical Allele Identifier: CA316926522
Community Standard Title: NM_207034.3(EDN3):c.*149del
Gene: EDN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59324608del , CM000682.2:g.59324608del GRCh38
NC_000020.10:g.57899663del , CM000682.1:g.57899663del GRCh37
NC_000020.9:g.57333058del NCBI36
NG_008050.1:g.29165del

Transcript Alleles

HGVS Amino-acid Change
NM_207034.3:c.*149del MANE Select NP_996917.1:n.*149del
ENST00000337938.7:c.*149del MANE Select ENSP00000337128.2:n.*149del
NM_001302455.1:c.*273del NP_001289384.1:n.*273del
NM_001302455.2:c.*273del NP_001289384.1:n.*273del
NM_001302456.1:c.*241del NP_001289385.1:n.*241del
NM_001302456.2:c.*241del NP_001289385.1:n.*241del
NM_207032.2:c.*241del NP_996915.1:n.*241del
NM_207032.3:c.*241del NP_996915.1:n.*241del
NM_207033.2:c.*149del NP_996916.1:n.*149del
NM_207033.3:c.*149del NP_996916.1:n.*149del
NM_207034.2:c.*149del NP_996917.1:n.*149del
ENST00000311585.11:c.*241del ENSP00000311854.7:n.*241del
ENST00000337938.6:c.*149del ENSP00000337128.2:n.*149del
ENST00000371025.7:c.*241del ENSP00000360064.3:n.*241del
ENST00000371028.6:c.*16-88del ENSP00000360067.2:n.*16-88del
ENST00000395654.3:c.*149del ENSP00000379015.3:n.*149del
ENST00000644821.1:c.*327del ENSP00000493472.1:n.*327del
ENST00000671744.1:n.1507del
XM_005260312.3:c.*149del XP_005260369.1:n.*149del
XM_005260312.4:c.*149del XP_005260369.1:n.*149del
XM_005260313.5:c.*241del XP_005260370.1:n.*241del
XM_006723734.3:c.*304del XP_006723797.1:n.*304del
XM_011528655.1:c.*149del XP_011526957.1:n.*149del
XM_011528655.2:c.*149del XP_011526957.1:n.*149del