Canonical Allele Identifier: CA2254006485

Gene: NOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27764940_27764942delinsGGA , CM000679.2:g.27764940_27764942delinsGGA	GRCh38
NC_000017.10:g.26091966_26091968delinsGGA , CM000679.1:g.26091966_26091968delinsGGA	GRCh37
NC_000017.9:g.23116093_23116095delinsGGA	NCBI36
NG_011470.1:g.40588_40590delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*3092+665_*3092+667delinsTCC	ENSP00000513259.1:n.*3092+665_*3092+667delinsTCC
ENST00000697338.1:c.2276+593_2276+595delinsTCC	ENSP00000513260.1:n.2276+593_2276+595delinsTCC
ENST00000697339.1:c.1390+665_1390+667delinsTCC	ENSP00000513261.1:n.1390+665_1390+667delinsTCC
ENST00000697340.1:c.*1145+593_*1145+595delinsTCC	ENSP00000513262.1:n.*1145+593_*1145+595delinsTCC
ENST00000697341.1:n.2398+593_2398+595delinsTCC
ENST00000313735.11:c.2428+593_2428+595delinsTCC MANE Select	ENSP00000327251.6:n.2428+593_2428+595delinsTCC
ENST00000646938.1:c.2425+593_2425+595delinsTCC	ENSP00000494870.1:n.2425+593_2425+595delinsTCC
ENST00000313735.10:c.2428+593_2428+595delinsTCC	ENSP00000327251.6:n.2428+593_2428+595delinsTCC
ENST00000621962.1:c.2311+593_2311+595delinsTCC	ENSP00000482291.1:n.2311+593_2311+595delinsTCC
NM_000625.4:c.2428+593_2428+595delinsTCC MANE Select	NP_000616.3:n.2428+593_2428+595delinsTCC
XM_011524859.1:c.2428+593_2428+595delinsTCC	XP_011523161.1:n.2428+593_2428+595delinsTCC
XM_011524860.1:c.2425+593_2425+595delinsTCC	XP_011523162.1:n.2425+593_2425+595delinsTCC
XM_011524861.1:c.2356+665_2356+667delinsTCC	XP_011523163.1:n.2356+665_2356+667delinsTCC
XM_011524862.1:c.1762+593_1762+595delinsTCC	XP_011523164.1:n.1762+593_1762+595delinsTCC