Canonical Allele Identifier: CA2556057120
Gene: NOS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992618_150992626del , CM000669.2:g.150992618_150992626del GRCh38
NC_000007.13:g.150689706_150689714del , CM000669.1:g.150689706_150689714del GRCh37
NC_000007.12:g.150320639_150320647del NCBI36
NG_011992.1:g.6560_6568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-51-1135_-51-1127del MANE Select ENSP00000297494.3:n.-51-1135_-51-1127del
ENST00000297494.7:c.-51-1135_-51-1127del ENSP00000297494.3:n.-51-1135_-51-1127del
ENST00000461406.5:c.-149+1318_-149+1326del ENSP00000417143.1:n.-149+1318_-149+1326del
NM_000603.4:c.-51-1135_-51-1127del NP_000594.2:n.-51-1135_-51-1127del
NM_000603.5:c.-51-1135_-51-1127del MANE Select NP_000594.2:n.-51-1135_-51-1127del