Canonical Allele Identifier: CA2778427637
Gene: NOS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151010913dup , CM000669.2:g.151010913dup GRCh38
NC_000007.13:g.150708001dup , CM000669.1:g.150708001dup GRCh37
NC_000007.12:g.150338934dup NCBI36
NG_011992.1:g.24855dup
NG_030317.1:g.18591dup

Transcript Alleles

HGVS Amino-acid change
ENST00000297494.8:c.2911dup MANE Select ENSP00000297494.3:p.Leu971ProfsTer?
ENST00000297494.7:c.2911dup ENSP00000297494.3:p.Leu971ProfsTer?
ENST00000461406.5:c.2293dup ENSP00000417143.1:p.Leu765ProfsTer?
ENST00000468293.5:n.394dup
ENST00000475017.1:c.792dup
ENST00000477227.1:n.290dup
NM_000603.4:c.2911dup NP_000594.2:p.Leu971ProfsTer?
NM_000603.5:c.2911dup MANE Select NP_000594.2:p.Leu971ProfsTer?