Canonical Allele Identifier: CA2254006499

Gene: NOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27764962_27764964delinsGCT , CM000679.2:g.27764962_27764964delinsGCT	GRCh38
NC_000017.10:g.26091988_26091990delinsGCT , CM000679.1:g.26091988_26091990delinsGCT	GRCh37
NC_000017.9:g.23116115_23116117delinsGCT	NCBI36
NG_011470.1:g.40566_40568delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*3092+643_*3092+645delinsAGC	ENSP00000513259.1:n.*3092+643_*3092+645delinsAGC
ENST00000697338.1:c.2276+571_2276+573delinsAGC	ENSP00000513260.1:n.2276+571_2276+573delinsAGC
ENST00000697339.1:c.1390+643_1390+645delinsAGC	ENSP00000513261.1:n.1390+643_1390+645delinsAGC
ENST00000697340.1:c.*1145+571_*1145+573delinsAGC	ENSP00000513262.1:n.*1145+571_*1145+573delinsAGC
ENST00000697341.1:n.2398+571_2398+573delinsAGC
ENST00000313735.11:c.2428+571_2428+573delinsAGC MANE Select	ENSP00000327251.6:n.2428+571_2428+573delinsAGC
ENST00000646938.1:c.2425+571_2425+573delinsAGC	ENSP00000494870.1:n.2425+571_2425+573delinsAGC
ENST00000313735.10:c.2428+571_2428+573delinsAGC	ENSP00000327251.6:n.2428+571_2428+573delinsAGC
ENST00000621962.1:c.2311+571_2311+573delinsAGC	ENSP00000482291.1:n.2311+571_2311+573delinsAGC
NM_000625.4:c.2428+571_2428+573delinsAGC MANE Select	NP_000616.3:n.2428+571_2428+573delinsAGC
XM_011524859.1:c.2428+571_2428+573delinsAGC	XP_011523161.1:n.2428+571_2428+573delinsAGC
XM_011524860.1:c.2425+571_2425+573delinsAGC	XP_011523162.1:n.2425+571_2425+573delinsAGC
XM_011524861.1:c.2356+643_2356+645delinsAGC	XP_011523163.1:n.2356+643_2356+645delinsAGC
XM_011524862.1:c.1762+571_1762+573delinsAGC	XP_011523164.1:n.1762+571_1762+573delinsAGC