Canonical Allele Identifier: CA2778426673
Gene: NOS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992619_150992626del , CM000669.2:g.150992619_150992626del GRCh38
NC_000007.13:g.150689707_150689714del , CM000669.1:g.150689707_150689714del GRCh37
NC_000007.12:g.150320640_150320647del NCBI36
NG_011992.1:g.6561_6568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-51-1134_-51-1127del MANE Select ENSP00000297494.3:n.-51-1134_-51-1127del
ENST00000297494.7:c.-51-1134_-51-1127del ENSP00000297494.3:n.-51-1134_-51-1127del
ENST00000461406.5:c.-149+1319_-149+1326del ENSP00000417143.1:n.-149+1319_-149+1326del
NM_000603.4:c.-51-1134_-51-1127del NP_000594.2:n.-51-1134_-51-1127del
NM_000603.5:c.-51-1134_-51-1127del MANE Select NP_000594.2:n.-51-1134_-51-1127del