Canonical Allele Identifier: CA2254006566

Gene: NOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27765129_27765131delinsCAT , CM000679.2:g.27765129_27765131delinsCAT	GRCh38
NC_000017.10:g.26092155_26092157delinsCAT , CM000679.1:g.26092155_26092157delinsCAT	GRCh37
NC_000017.9:g.23116282_23116284delinsCAT	NCBI36
NG_011470.1:g.40399_40401delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*3092+476_*3092+478delinsATG	ENSP00000513259.1:n.*3092+476_*3092+478delinsATG
ENST00000697338.1:c.2276+404_2276+406delinsATG	ENSP00000513260.1:n.2276+404_2276+406delinsATG
ENST00000697339.1:c.1390+476_1390+478delinsATG	ENSP00000513261.1:n.1390+476_1390+478delinsATG
ENST00000697340.1:c.*1145+404_*1145+406delinsATG	ENSP00000513262.1:n.*1145+404_*1145+406delinsATG
ENST00000697341.1:n.2398+404_2398+406delinsATG
ENST00000313735.11:c.2428+404_2428+406delinsATG MANE Select	ENSP00000327251.6:n.2428+404_2428+406delinsATG
ENST00000646938.1:c.2425+404_2425+406delinsATG	ENSP00000494870.1:n.2425+404_2425+406delinsATG
ENST00000313735.10:c.2428+404_2428+406delinsATG	ENSP00000327251.6:n.2428+404_2428+406delinsATG
ENST00000621962.1:c.2311+404_2311+406delinsATG	ENSP00000482291.1:n.2311+404_2311+406delinsATG
NM_000625.4:c.2428+404_2428+406delinsATG MANE Select	NP_000616.3:n.2428+404_2428+406delinsATG
XM_011524859.1:c.2428+404_2428+406delinsATG	XP_011523161.1:n.2428+404_2428+406delinsATG
XM_011524860.1:c.2425+404_2425+406delinsATG	XP_011523162.1:n.2425+404_2425+406delinsATG
XM_011524861.1:c.2356+476_2356+478delinsATG	XP_011523163.1:n.2356+476_2356+478delinsATG
XM_011524862.1:c.1762+404_1762+406delinsATG	XP_011523164.1:n.1762+404_1762+406delinsATG