Canonical Allele Identifier: CA2254006515

Gene: NOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27764986_27764990delinsCTTTT , CM000679.2:g.27764986_27764990delinsCTTTT	GRCh38
NC_000017.10:g.26092012_26092016delinsCTTTT , CM000679.1:g.26092012_26092016delinsCTTTT	GRCh37
NC_000017.9:g.23116139_23116143delinsCTTTT	NCBI36
NG_011470.1:g.40540_40544delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*3092+617_*3092+621delinsAAAAG	ENSP00000513259.1:n.*3092+617_*3092+621delinsAAAAG
ENST00000697338.1:c.2276+545_2276+549delinsAAAAG	ENSP00000513260.1:n.2276+545_2276+549delinsAAAAG
ENST00000697339.1:c.1390+617_1390+621delinsAAAAG	ENSP00000513261.1:n.1390+617_1390+621delinsAAAAG
ENST00000697340.1:c.*1145+545_*1145+549delinsAAAAG	ENSP00000513262.1:n.*1145+545_*1145+549delinsAAAAG
ENST00000697341.1:n.2398+545_2398+549delinsAAAAG
ENST00000313735.11:c.2428+545_2428+549delinsAAAAG MANE Select	ENSP00000327251.6:n.2428+545_2428+549delinsAAAAG
ENST00000646938.1:c.2425+545_2425+549delinsAAAAG	ENSP00000494870.1:n.2425+545_2425+549delinsAAAAG
ENST00000313735.10:c.2428+545_2428+549delinsAAAAG	ENSP00000327251.6:n.2428+545_2428+549delinsAAAAG
ENST00000621962.1:c.2311+545_2311+549delinsAAAAG	ENSP00000482291.1:n.2311+545_2311+549delinsAAAAG
NM_000625.4:c.2428+545_2428+549delinsAAAAG MANE Select	NP_000616.3:n.2428+545_2428+549delinsAAAAG
XM_011524859.1:c.2428+545_2428+549delinsAAAAG	XP_011523161.1:n.2428+545_2428+549delinsAAAAG
XM_011524860.1:c.2425+545_2425+549delinsAAAAG	XP_011523162.1:n.2425+545_2425+549delinsAAAAG
XM_011524861.1:c.2356+617_2356+621delinsAAAAG	XP_011523163.1:n.2356+617_2356+621delinsAAAAG
XM_011524862.1:c.1762+545_1762+549delinsAAAAG	XP_011523164.1:n.1762+545_1762+549delinsAAAAG