Canonical Allele Identifier: CA2513710048
Gene: NOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27765081del , CM000679.2:g.27765081del GRCh38
NC_000017.10:g.26092107del , CM000679.1:g.26092107del GRCh37
NC_000017.9:g.23116234del NCBI36
NG_011470.1:g.40449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697337.1:c.*3092+526del ENSP00000513259.1:n.*3092+526del
ENST00000697338.1:c.2276+454del ENSP00000513260.1:n.2276+454del
ENST00000697339.1:c.1390+526del ENSP00000513261.1:n.1390+526del
ENST00000697340.1:c.*1145+454del ENSP00000513262.1:n.*1145+454del
ENST00000697341.1:n.2398+454del
ENST00000313735.11:c.2428+454del MANE Select ENSP00000327251.6:n.2428+454del
ENST00000646938.1:c.2425+454del ENSP00000494870.1:n.2425+454del
ENST00000313735.10:c.2428+454del ENSP00000327251.6:n.2428+454del
ENST00000621962.1:c.2311+454del ENSP00000482291.1:n.2311+454del
NM_000625.4:c.2428+454del MANE Select NP_000616.3:n.2428+454del
XM_011524859.1:c.2428+454del XP_011523161.1:n.2428+454del
XM_011524860.1:c.2425+454del XP_011523162.1:n.2425+454del
XM_011524861.1:c.2356+526del XP_011523163.1:n.2356+526del
XM_011524862.1:c.1762+454del XP_011523164.1:n.1762+454del