Canonical Allele Identifier: CA2579063488
Gene: NOS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151001938del , CM000669.2:g.151001938del GRCh38
NC_000007.13:g.150699026del , CM000669.1:g.150699026del GRCh37
NC_000007.12:g.150329959del NCBI36
NG_011992.1:g.15880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.1620del MANE Select ENSP00000297494.3:p.Arg540SerfsTer?
ENST00000297494.7:c.1620del ENSP00000297494.3:p.Arg540SerfsTer?
ENST00000460603.1:n.72del
ENST00000461406.5:c.1002del ENSP00000417143.1:p.Arg334SerfsTer?
ENST00000467517.1:c.1620del ENSP00000420551.1:p.Arg540SerfsTer?
ENST00000484524.5:c.1620del ENSP00000420215.1:p.Arg540SerfsTer?
NM_000603.4:c.1620del NP_000594.2:p.Arg540SerfsTer?
NM_001160109.1:c.1620del NP_001153581.1:p.Arg540SerfsTer?
NM_001160110.1:c.1620del NP_001153582.1:p.Arg540SerfsTer?
NM_001160111.1:c.1620del NP_001153583.1:p.Arg540SerfsTer?
XM_006716002.2:c.1620del XP_006716065.1:p.Arg540SerfsTer?
NM_000603.5:c.1620del MANE Select NP_000594.2:p.Arg540SerfsTer?
NM_001160109.2:c.1620del NP_001153581.1:p.Arg540SerfsTer?