Canonical Allele Identifier: CA2254006433
Gene: NOS2 HGNC NCBI

Linked Data

dbSNP Id: rs1908245452

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27764851_27764856del , CM000679.2:g.27764851_27764856del GRCh38
NC_000017.10:g.26091877_26091882del , CM000679.1:g.26091877_26091882del GRCh37
NC_000017.9:g.23116004_23116009del NCBI36
NG_011470.1:g.40675_40680del

Transcript Alleles

HGVS Amino-acid change
ENST00000697337.1:c.*3093-711_*3093-706del ENSP00000513259.1:n.*3093-711_*3093-706del
ENST00000697338.1:c.2276+680_2276+685del ENSP00000513260.1:n.2276+680_2276+685del
ENST00000697339.1:c.1391-711_1391-706del ENSP00000513261.1:n.1391-711_1391-706del
ENST00000697340.1:c.*1145+680_*1145+685del ENSP00000513262.1:n.*1145+680_*1145+685del
ENST00000697341.1:n.2398+680_2398+685del
ENST00000313735.11:c.2428+680_2428+685del MANE Select ENSP00000327251.6:n.2428+680_2428+685del
ENST00000646938.1:c.2425+680_2425+685del ENSP00000494870.1:n.2425+680_2425+685del
ENST00000313735.10:c.2428+680_2428+685del ENSP00000327251.6:n.2428+680_2428+685del
ENST00000621962.1:c.2311+680_2311+685del ENSP00000482291.1:n.2311+680_2311+685del
NM_000625.4:c.2428+680_2428+685del MANE Select NP_000616.3:n.2428+680_2428+685del
XM_011524859.1:c.2428+680_2428+685del XP_011523161.1:n.2428+680_2428+685del
XM_011524860.1:c.2425+680_2425+685del XP_011523162.1:n.2425+680_2425+685del
XM_011524861.1:c.2357-711_2357-706del XP_011523163.1:n.2357-711_2357-706del
XM_011524862.1:c.1762+680_1762+685del XP_011523164.1:n.1762+680_1762+685del