Canonical Allele Identifier: CA2254006460
Gene: NOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27764903_27764906delinsTGTC , CM000679.2:g.27764903_27764906delinsTGTC GRCh38
NC_000017.10:g.26091929_26091932delinsTGTC , CM000679.1:g.26091929_26091932delinsTGTC GRCh37
NC_000017.9:g.23116056_23116059delinsTGTC NCBI36
NG_011470.1:g.40624_40627delinsGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000697337.1:c.*3092+701_*3092+704delinsGACA ENSP00000513259.1:n.*3092+701_*3092+704delinsGACA
ENST00000697338.1:c.2276+629_2276+632delinsGACA ENSP00000513260.1:n.2276+629_2276+632delinsGACA
ENST00000697339.1:c.1390+701_1390+704delinsGACA ENSP00000513261.1:n.1390+701_1390+704delinsGACA
ENST00000697340.1:c.*1145+629_*1145+632delinsGACA ENSP00000513262.1:n.*1145+629_*1145+632delinsGACA
ENST00000697341.1:n.2398+629_2398+632delinsGACA
ENST00000313735.11:c.2428+629_2428+632delinsGACA MANE Select ENSP00000327251.6:n.2428+629_2428+632delinsGACA
ENST00000646938.1:c.2425+629_2425+632delinsGACA ENSP00000494870.1:n.2425+629_2425+632delinsGACA
ENST00000313735.10:c.2428+629_2428+632delinsGACA ENSP00000327251.6:n.2428+629_2428+632delinsGACA
ENST00000621962.1:c.2311+629_2311+632delinsGACA ENSP00000482291.1:n.2311+629_2311+632delinsGACA
NM_000625.4:c.2428+629_2428+632delinsGACA MANE Select NP_000616.3:n.2428+629_2428+632delinsGACA
XM_011524859.1:c.2428+629_2428+632delinsGACA XP_011523161.1:n.2428+629_2428+632delinsGACA
XM_011524860.1:c.2425+629_2425+632delinsGACA XP_011523162.1:n.2425+629_2425+632delinsGACA
XM_011524861.1:c.2356+701_2356+704delinsGACA XP_011523163.1:n.2356+701_2356+704delinsGACA
XM_011524862.1:c.1762+629_1762+632delinsGACA XP_011523164.1:n.1762+629_1762+632delinsGACA