Canonical Allele Identifier: CA2778427297
Gene: NOS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150999049_150999050dup , CM000669.2:g.150999049_150999050dup GRCh38
NC_000007.13:g.150696137_150696138dup , CM000669.1:g.150696137_150696138dup GRCh37
NC_000007.12:g.150327070_150327071dup NCBI36
NG_011992.1:g.12991_12992dup

Transcript Alleles

HGVS Amino-acid change
ENST00000297494.8:c.920_921dup MANE Select ENSP00000297494.3:p.Glu308ProfsTer?
ENST00000297494.7:c.920_921dup ENSP00000297494.3:p.Glu308ProfsTer?
ENST00000461406.5:c.302_303dup ENSP00000417143.1:p.Glu102ProfsTer?
ENST00000467517.1:c.920_921dup ENSP00000420551.1:p.Glu308ProfsTer?
ENST00000484524.5:c.920_921dup ENSP00000420215.1:p.Glu308ProfsTer?
NM_000603.4:c.920_921dup NP_000594.2:p.Glu308ProfsTer?
NM_001160109.1:c.920_921dup NP_001153581.1:p.Glu308ProfsTer?
NM_001160110.1:c.920_921dup NP_001153582.1:p.Glu308ProfsTer?
NM_001160111.1:c.920_921dup NP_001153583.1:p.Glu308ProfsTer?
XM_006716002.2:c.920_921dup XP_006716065.1:p.Glu308ProfsTer?
NM_000603.5:c.920_921dup MANE Select NP_000594.2:p.Glu308ProfsTer?
NM_001160109.2:c.920_921dup NP_001153581.1:p.Glu308ProfsTer?