Canonical Allele Identifier: CA2254006512

Gene: NOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27764976_27764979delinsATCC , CM000679.2:g.27764976_27764979delinsATCC	GRCh38
NC_000017.10:g.26092002_26092005delinsATCC , CM000679.1:g.26092002_26092005delinsATCC	GRCh37
NC_000017.9:g.23116129_23116132delinsATCC	NCBI36
NG_011470.1:g.40551_40554delinsGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*3092+628_*3092+631delinsGGAT	ENSP00000513259.1:n.*3092+628_*3092+631delinsGGAT
ENST00000697338.1:c.2276+556_2276+559delinsGGAT	ENSP00000513260.1:n.2276+556_2276+559delinsGGAT
ENST00000697339.1:c.1390+628_1390+631delinsGGAT	ENSP00000513261.1:n.1390+628_1390+631delinsGGAT
ENST00000697340.1:c.*1145+556_*1145+559delinsGGAT	ENSP00000513262.1:n.*1145+556_*1145+559delinsGGAT
ENST00000697341.1:n.2398+556_2398+559delinsGGAT
ENST00000313735.11:c.2428+556_2428+559delinsGGAT MANE Select	ENSP00000327251.6:n.2428+556_2428+559delinsGGAT
ENST00000646938.1:c.2425+556_2425+559delinsGGAT	ENSP00000494870.1:n.2425+556_2425+559delinsGGAT
ENST00000313735.10:c.2428+556_2428+559delinsGGAT	ENSP00000327251.6:n.2428+556_2428+559delinsGGAT
ENST00000621962.1:c.2311+556_2311+559delinsGGAT	ENSP00000482291.1:n.2311+556_2311+559delinsGGAT
NM_000625.4:c.2428+556_2428+559delinsGGAT MANE Select	NP_000616.3:n.2428+556_2428+559delinsGGAT
XM_011524859.1:c.2428+556_2428+559delinsGGAT	XP_011523161.1:n.2428+556_2428+559delinsGGAT
XM_011524860.1:c.2425+556_2425+559delinsGGAT	XP_011523162.1:n.2425+556_2425+559delinsGGAT
XM_011524861.1:c.2356+628_2356+631delinsGGAT	XP_011523163.1:n.2356+628_2356+631delinsGGAT
XM_011524862.1:c.1762+556_1762+559delinsGGAT	XP_011523164.1:n.1762+556_1762+559delinsGGAT