Canonical Allele Identifier: CA2636789671

Gene: NOS2

Linked Data

• gnomAD v4: 17-27782172-G-GCAAATGAGCTGTTCAGTCCTATTAGCTTTGACCTCGTTGGTTGGGAGAGGAAGGTAACCTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782172_27782173insCAAATGAGCTGTTCAGTCCTATTAGCTTTGACCTCGTTGGTTGGGAGAGGAAGGTAACCTCTT , CM000679.2:g.27782172_27782173insCAAATGAGCTGTTCAGTCCTATTAGCTTTGACCTCGTTGGTTGGGAGAGGAAGGTAACCTCTT	GRCh38
NC_000017.10:g.26109198_26109199insCAAATGAGCTGTTCAGTCCTATTAGCTTTGACCTCGTTGGTTGGGAGAGGAAGGTAACCTCTT , CM000679.1:g.26109198_26109199insCAAATGAGCTGTTCAGTCCTATTAGCTTTGACCTCGTTGGTTGGGAGAGGAAGGTAACCTCTT	GRCh37
NC_000017.9:g.23133325_23133326insCAAATGAGCTGTTCAGTCCTATTAGCTTTGACCTCGTTGGTTGGGAGAGGAAGGTAACCTCTT	NCBI36
NG_011470.1:g.23357_23358insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*77-67_*77-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	ENSP00000513259.1:n.*77-67_*77-66insAAGAGGTTACCTTCCTCTCCCAACC...
ENST00000697338.1:c.479-67_479-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	ENSP00000513260.1:n.479-67_479-66insAAGAGGTTACCTTCCTCTCCCAACC...
ENST00000697339.1:c.315+6636_315+6637insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	ENSP00000513261.1:n.315+6636_315+6637insAAGAGGTTACCTTCCTCTCCC...
ENST00000697340.1:c.628-67_628-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	ENSP00000513262.1:n.628-67_628-66insAAGAGGTTACCTTCCTCTCCCAACC...
ENST00000697341.1:n.601-67_601-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG
ENST00000313735.11:c.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG MANE Select	ENSP00000327251.6:n.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACC...
ENST00000646938.1:c.628-67_628-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	ENSP00000494870.1:n.628-67_628-66insAAGAGGTTACCTTCCTCTCCCAACC...
ENST00000313735.10:c.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	ENSP00000327251.6:n.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACC...
ENST00000621962.1:c.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	ENSP00000482291.1:n.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACC...
NM_000625.4:c.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG MANE Select	NP_000616.3:n.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAG...
XM_011524859.1:c.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	XP_011523161.1:n.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAAC...
XM_011524860.1:c.628-67_628-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	XP_011523162.1:n.628-67_628-66insAAGAGGTTACCTTCCTCTCCCAACCAAC...
XM_011524861.1:c.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	XP_011523163.1:n.631-67_631-66insAAGAGGTTACCTTCCTCTCCCAACCAAC...
XM_011524862.1:c.-36-67_-36-66insAAGAGGTTACCTTCCTCTCCCAACCAACGAGGTCAAAGCTAATAGGACTGAACAGCTCATTTG	XP_011523164.1:n.-36-67_-36-66insAAGAGGTTACCTTCCTCTCCCAACCAAC...